A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704221



Internal ID15440873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176673538..176827844hg38UCSC Ensembl
Innerchr2:177538266..177692572hg19UCSC Ensembl
Innerchr2:177246512..177400818hg18UCSC Ensembl
Innerchr2:177363773..177518079hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38154307
hg19154307
hg18154307
hg17154307
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527737
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704221
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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