A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696164



Internal ID15086130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18595118..18598669hg38UCSC Ensembl
Innerchr8:18452628..18456179hg19UCSC Ensembl
Innerchr8:18496908..18500459hg18UCSC Ensembl
Innerchr8:18496908..18500459hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg383552
hg193552
hg183552
hg173552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521053
Supporting Variants
Samples
Known GenesPSD3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696164
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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