A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702684



Internal ID15439336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44934159..44938250hg38UCSC Ensembl
Innerchr2:45161298..45165389hg19UCSC Ensembl
Innerchr2:45014802..45018893hg18UCSC Ensembl
Innerchr2:45072949..45077040hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg384092
hg194092
hg184092
hg174092
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526386
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702684
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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