A curated catalogue of human genomic structural variation




Graphs

Content Growth

This graph shows the increase in published structural variation data that have been added to the database since its start in 2004; the numbers reflect the year of publication.


Size distribution (CNV)

The graph displays the size distribution of CNVs in the database.


Number of Studies

This graph shows the number of studies currently in DGV by published year.



Stats

Coverage (CNV):

The table shows the data underlying the graph showing the non-redundant CNV coverage per chromosome. Note that there are several biases going into the underlying data. Specifically, studies based on BAC arrays tend to significantly overestimate the size of variants. At the same time, there are still a lot of smaller CNVs (<30kb) that remain to be identified.

ChrNucleotides CoveredChromosome Length% Coverage
chr116211265524925062165.04
chr217193729224319937370.7
chr314191052519802243071.66
chr413399353819115427670.1
chr513042111318091526072.09
chr611453999417111506766.94
chr712628839515913866379.36
chr810398711214636402271.05
chr99707160914121343168.74
chr1010063770513553474774.25
chr119687146713500651671.75
chr129826634113385189573.41
chr137191789711516987862.45
chr146244374210734954058.17
chr156598735010253139264.36
chr16657127239035475372.73
chr17626810988119521077.2
chr18540505197807724869.23
chr19473522765912898380.08
chr20446722506302552070.88
chr21281672744812989558.52
chr22308279595130456660.09
chrX10112784715527056065.13
chrY144987545937356624.42
Total2127477435309567741268.72

Overlap:

The following table shows the overlaps of CNVs with relevant genomic features. It is important to remember that many CNVs currently have overestimated boundaries, which leads to an exaggeration of the number of features overlapping CNVs. The genes refer to NCBI RefSeq genes and the OMIM category includes genes that are represented in the OMIM Morbid Map.

Feature# of Features Overlapped by CNVs# of CNVs Overlapped by Features
Transcripts (45532)41516 (91.18%)297971 (46.98%)
Exons (440637)332977 (75.57%)119718 (18.88%)
microRNA (1341)1085 (80.91%)5684 (0.9%)
OMIM (2785)2541 (91.24%)49791 (7.85%)
Segmental Duplications (51375)48761 (94.91%)126515 (19.95%)

Summary of Filtered Variants


Display NameCountFilter Reason


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