A curated catalogue of human genomic structural variation

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Examples: chr7:71890181..72690180, CFTR, AC108171.3, nsv529033.
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The following 16 regions match your request.


Name Type Description Position Match Score
nssv1607699 supporting_variant:DGVa retroCNV insertion of a retrotransposition of ZNF664 mRNA. chr2:3931683..3931712 6
nsv930501 toplevel_variant:DGVa retroCNV insertion of a retrotransposition of ZNF664 mRNA. chr2:3931683..3931712 6
ZNF669|NM_001142572 transcript chr1:247263264..247267674 n/a
ZNF662|NM_207404 transcript chr3:42947402..42960825 n/a
ZNF662|NM_001134656 transcript chr3:42947658..42960825 n/a
ZNF660|NM_173658 transcript chr3:44626456..44637557 n/a
ZNF664|NM_001204298 transcript chr12:124457762..124499986 n/a
ZNF664-FAM101A|NM_001204299 transcript chr12:124457762..124800570 n/a
ZNF668|NM_001172669 transcript chr16:31072164..31076409 n/a
ZNF668|NM_024706 transcript chr16:31072164..31085641 n/a
ZNF668|NM_001172668 transcript chr16:31072169..31084823 n/a
ZNF663P|NR_045983 transcript chr20:45085132..45086282 n/a
ZNF665|NM_024733 transcript chr19:53666552..53696619 n/a
ZNF667|NM_022103 transcript chr19:56950693..56988770 n/a
ZNF667-AS1|NR_036521 transcript chr19:56989243..57006805 n/a
ZNF667-AS1|NR_036522 transcript chr19:56989493..57006805 n/a
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- Tracks
- Breakpoints
Breakpoint annotations from Lam et al (Blue:Gain;Red:Loss;Indigo:Inversion;Brown:Complex) [?] Annotations from Conrad et al [?] Breakpoint annotations from Pang 2012 (Blue:Gain;Red:Loss;Indigo:Inversion;Brown:Complex) [?]
- CGH Arrays
Agilent 244k [?] Clones on SMRT BAC Array [?] 
- CN Assays
Life Technologies TaqMan Copy Number Assays [?]  
- Chromosome
Cytogenetic Bands [?] Assembly [?] Gap [?]
- Clones
BAC End Pairs [?] Fosmid End Pairs [?] 
- Disease
ISCA Curated clinically relevant regions [?] Disease Genes (OMIM) [?] DECIPHER: Chromosomal Imbalance and Phenotype in Humans (Blue:Gain;Red:Loss;Brown:Complex;Black:NA) [?]
ISCA Clinical cytogenetic testing (Blue:Gain;Red:Loss;Brown:Complex;Black:NA) [?] DECIPHER Genomic Disorders [?] 
- Gene
RefSeq Genes [?] mRNA [?] microRNA [?]
- General
Personal Genome Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?] SNPs [?] 
dbRIP [?] RepeatMasker [?] 
- SNP Arrays
AFFY SNP Array 5.0 [?] ILMN HumanHap 300 [?] ILMN HumanHap 650Y [?]
AFFY SNP Array 6.0 [?] ILMN HumanHap 550 [?] ILMN Human 660W [?]
AFFY CytoScan HD [?] ILMN Human 610 Quad [?] ILMN HumanHap 1M [?]
- Segmental Duplications
UCSC segmental duplications [?]  
- Study Variants
DGV Structural Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?] Unannotated Studies (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?] DGV Gold Standard Variants (blue=Gain; red=Loss; brown=Gain+Loss) [?]
Supporting Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inverison;Black:Unknown) [?] Nat. Rev. Gen. CNV Map - Inclusive (blue=Gain; red=Loss; brown=Gain+Loss) [?] OPGP Affymetrix CytoHD Variants (blue=Gain; red=Loss; solidbox=AFFY_FILTER; solidline=MULTI_ALGO; dashedline=ONLY_CHAS) [?]
DGV Version 1 Structural Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?] Nat. Rev. Gen. CNV Map - Stringent (blue=Gain; red=Loss; brown=Gain+Loss) [?] 
- Overview
Chromosome (overview)   

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