A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705545



Internal ID15442197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40578287..40991670hg38UCSC Ensembl
Innerchr2:40805427..41218810hg19UCSC Ensembl
Innerchr2:40658931..41072314hg18UCSC Ensembl
Innerchr2:40717078..41130461hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38413384
hg19413384
hg18413384
hg17413384
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528865
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705545
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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