A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519035



Internal ID15099642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127437668..127452824hg38UCSC Ensembl
Innerchr2:128195244..128210400hg19UCSC Ensembl
Innerchr2:127911714..127926870hg18UCSC Ensembl
Innerchr2:127911474..127926630hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3815157
hg1915157
hg1815157
hg1715157
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696503
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519035
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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