A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv656142



Internal ID15046108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128400065..128401083hg38UCSC Ensembl
Innerchr2:129157639..129158657hg19UCSC Ensembl
Innerchr2:128874109..128875127hg18UCSC Ensembl
Innerchr2:128873869..128874887hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381019
hg191019
hg181019
hg171019
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516672
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv656142
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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