A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700066



Internal ID15436718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:234396688..234398894hg38UCSC Ensembl
Innerchr2:235305332..235307538hg19UCSC Ensembl
Innerchr2:234970071..234972277hg18UCSC Ensembl
Innerchr2:235087332..235089538hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382207
hg192207
hg182207
hg172207
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524184
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700066
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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