A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv732554



Internal ID15679824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:189789642..190402541hg38UCSC Ensembl
Innerchr1:189758772..190371671hg19UCSC Ensembl
Innerchr1:188025395..188638294hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38612900
hg19612900
hg18612900
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548532
Supporting Variants
Samples
Known GenesBRINP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv732554
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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