A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523948



Internal ID15104555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50178521..50354566hg38UCSC Ensembl
Innerchr19:50681778..50857823hg19UCSC Ensembl
Innerchr19:55373590..55549635hg18UCSC Ensembl
Innerchr19:55373590..55549635hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38176046
hg19176046
hg18176046
hg17176046
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699795
Samples
Known GenesKCNC3, MYH14, NAPSB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523948
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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