A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521232



Internal ID6012815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167160959..167357561hg19UCSC Ensembl
Innerchr1:165427583..165624185hg18UCSC Ensembl
Innerchr1:163892617..164089219hg17UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv686755, nssv698681, nssv688320
Samples
Known GenesPOU2F1
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
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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