A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522246



Internal ID15449539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:161104414..161106743hg38UCSC Ensembl
Innerchr2:161960925..161963254hg19UCSC Ensembl
Innerchr2:161669171..161671500hg18UCSC Ensembl
Innerchr2:161786432..161788761hg17UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg382330
hg192330
hg182330
hg172330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695026
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522246
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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