A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691382



Internal ID15081348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212994430..212996880hg38UCSC Ensembl
Innerchr2:213859154..213861604hg19UCSC Ensembl
Innerchr2:213567399..213569849hg18UCSC Ensembl
Innerchr2:213684660..213687110hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg382451
hg192451
hg182451
hg172451
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517070
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691382
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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