A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598671



Internal ID16386080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:75053174..75053663hg38UCSC Ensembl
Innerchr5:74348999..74349488hg19UCSC Ensembl
Innerchr5:74384755..74385244hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38490
hg19490
hg18490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9882n54
Supporting Variantsnssv1035131, nssv1035132
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598671
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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