A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597141



Internal ID16384550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:10760904..10761497hg38UCSC Ensembl
Innerchr5:10761016..10761609hg19UCSC Ensembl
Innerchr5:10814016..10814609hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38594
hg19594
hg18594
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9582n54
Supporting Variantsnssv1025283, nssv1025282, nssv1025281
Samples
Known GenesDAP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597141
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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