A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596792



Internal ID16384201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1008545..1009454hg38UCSC Ensembl
Innerchr5:1008660..1009569hg19UCSC Ensembl
Innerchr5:1061660..1062569hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38910
hg19910
hg18910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9519n54
Supporting Variantsnssv1021470, nssv1021472, nssv1021468, nssv1021467, nssv1021471, nssv1021469
Samples
Known GenesNKD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596792
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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