A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516082



Internal ID15096689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232474838..232511074hg38UCSC Ensembl
Innerchr2:233339548..233375784hg19UCSC Ensembl
Innerchr2:233047792..233084028hg18UCSC Ensembl
Innerchr2:233165053..233201289hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3836237
hg1936237
hg1836237
hg1736237
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv681835, nssv666104, nssv692005
Samples
Known GenesECEL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516082
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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