A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv666104



Internal ID15056070
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516082
Supporting Variants
Samples
Known GenesECEL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv666104
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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