A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517274



Internal ID15097881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130845653..130865593hg38UCSC Ensembl
Innerchr2:131603226..131623166hg19UCSC Ensembl
Innerchr2:131319696..131339636hg18UCSC Ensembl
Innerchr2:131436958..131456898hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3819941
hg1919941
hg1819941
hg1719941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654758, nssv685535, nssv681596, nssv667287, nssv661806, nssv679622, nssv655938, nssv658349, nssv674536, nssv653775, nssv686496, nssv696138, nssv673402, nssv693879, nssv656889
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517274
Frequency
Sample Size2026
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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