A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv681835



Internal ID15071801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232474838..232508140hg38UCSC Ensembl
Innerchr2:233339548..233372850hg19UCSC Ensembl
Innerchr2:233047792..233081094hg18UCSC Ensembl
Innerchr2:233165053..233198355hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3833303
hg1933303
hg1833303
hg1733303
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)nssv681835
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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