A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516292



Internal ID15443585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:101155268..101589980hg38UCSC Ensembl
Innerchr5:100490972..100925684hg19UCSC Ensembl
Innerchr5:100518871..100953583hg18UCSC Ensembl
Innerchr5:100518871..100953583hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38434713
hg19434713
hg18434713
hg17434713
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv667385, nssv673058
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516292
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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