A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545359



Internal ID16332768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9261182..9327385hg38UCSC Ensembl
Innerchr1:9321241..9387444hg19UCSC Ensembl
Innerchr1:9243828..9310031hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3866204
hg1966204
hg1866204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv96n54
Supporting Variantsnssv709667, nssv709668, nssv709669, nssv709666
Samples
Known GenesH6PD, SPSB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545359
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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