A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548532



Internal ID15989255
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 StatusM
Merged Variants
Supporting Variantsnssv732554
Samples
Known GenesBRINP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548532
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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