A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598673



Internal ID16386082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:75053226..75053675hg38UCSC Ensembl
Innerchr5:74349051..74349500hg19UCSC Ensembl
Innerchr5:74384807..74385256hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38450
hg19450
hg18450
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9882n54
Supporting Variantsnssv1035134
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598673
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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