A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv671729



Internal ID15408381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:4253892..4381985hg38UCSC Ensembl
Innerchr7:4293524..4421616hg19UCSC Ensembl
Innerchr7:4260050..4388142hg18UCSC Ensembl
Innerchr7:4066765..4194857hg17UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38128094
hg19128093
hg18128093
hg17128093
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517675
Supporting Variants
Samples
Known GenesSDK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv671729
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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