A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598682



Internal ID16386091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76771799..76817044hg38UCSC Ensembl
Innerchr5:76067624..76112869hg19UCSC Ensembl
Innerchr5:76103380..76148625hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3845246
hg1945246
hg1845246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153937
Samples1780862346_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598682
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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