A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596794



Internal ID16384203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1008649..1009348hg38UCSC Ensembl
Innerchr5:1008764..1009463hg19UCSC Ensembl
Innerchr5:1061764..1062463hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38700
hg19700
hg18700
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9520n54
Supporting Variantsnssv1021476, nssv1021477, nssv1021475, nssv1021474
Samples
Known GenesNKD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596794
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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