A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521058



Internal ID15448351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128215551..128250758hg38UCSC Ensembl
Innerchr2:128973125..129008332hg19UCSC Ensembl
Innerchr2:128689595..128724802hg18UCSC Ensembl
Innerchr2:128689355..128724562hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3835208
hg1935208
hg1835208
hg1735208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697760
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521058
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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