A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698681



Internal ID15088647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167304523..167342420hg38UCSC Ensembl
Innerchr1:167273760..167311657hg19UCSC Ensembl
Innerchr1:165540384..165578281hg18UCSC Ensembl
Innerchr1:164005418..164043315hg17UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3837898
hg1937898
hg1837898
hg1737898
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
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)nssv698681
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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