A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1030139



Internal ID15883325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50113651..50141766hg38UCSC Ensembl
Innerchr5:49409485..49437600hg19UCSC Ensembl
Innerchr5:49445242..49473357hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3828116
hg1928116
hg1828116
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598086
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1030139
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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