A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv670068



Internal ID15060034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128250324..128400065hg38UCSC Ensembl
Innerchr2:129007898..129157639hg19UCSC Ensembl
Innerchr2:128724368..128874109hg18UCSC Ensembl
Innerchr2:128724128..128873869hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38149742
hg19149742
hg18149742
hg17149742
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516672
Supporting Variants
Samples
Known GenesHS6ST1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv670068
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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