A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516937



Internal ID8411212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32827083..32831396hg38UCSC Ensembl
Innerchr12:32980017..32984330hg19UCSC Ensembl
Innerchr12:32871284..32875597hg18UCSC Ensembl
Innerchr12:32871284..32875597hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg384314
hg194314
hg184314
hg174314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv658411, nssv693328, nssv672522, nssv655060, nssv674333, nssv675595
Samples
Known GenesPKP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516937
Frequency
Sample Size2026
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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