A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598667



Internal ID16386076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:75053016..75053612hg38UCSC Ensembl
Innerchr5:74348841..74349437hg19UCSC Ensembl
Innerchr5:74384597..74385193hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38597
hg19597
hg18597
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9880n54
Supporting Variantsnssv1035127
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598667
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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