A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521232



Internal ID8415507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167191722..167388324hg38UCSC Ensembl
Innerchr1:167160959..167357561hg19UCSC Ensembl
Innerchr1:165427583..165624185hg18UCSC Ensembl
Innerchr1:163892617..164089219hg17UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38196603
hg19196603
hg18196603
hg17196603
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv686755, nssv698681, nssv688320
Samples
Known GenesPOU2F1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521232
Frequency
Sample Size2026
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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