A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682450



Internal ID15419102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:41003158..41018361hg38UCSC Ensembl
Innerchr2:41230298..41245501hg19UCSC Ensembl
Innerchr2:41083802..41099005hg18UCSC Ensembl
Innerchr2:41141949..41157152hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3815204
hg1915204
hg1815204
hg1715204
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515841
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv682450
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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