A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599621



Internal ID16387030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:121600538..121696446hg38UCSC Ensembl
Innerchr5:120936233..121032141hg19UCSC Ensembl
Innerchr5:120964132..121060040hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3895909
hg1995909
hg1895909
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10056n54
Supporting Variantsnssv1031997, nssv1031998
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599621
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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