A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599619



Internal ID16387028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:121596154..121656606hg38UCSC Ensembl
Innerchr5:120931849..120992301hg19UCSC Ensembl
Innerchr5:120959748..121020200hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3860453
hg1960453
hg1860453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1031995
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599619
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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