A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688320



Internal ID15078286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167191722..167350526hg38UCSC Ensembl
Innerchr1:167160959..167319763hg19UCSC Ensembl
Innerchr1:165427583..165586387hg18UCSC Ensembl
Innerchr1:163892617..164051421hg17UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38158805
hg19158805
hg18158805
hg17158805
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521232
Supporting Variants
Samples
Known GenesPOU2F1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688320
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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