A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516937



Internal ID6013629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32980017..32984330hg19UCSC Ensembl
Innerchr12:32871284..32875597hg18UCSC Ensembl
Innerchr12:32871284..32875597hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv658411, nssv693328, nssv672522, nssv655060, nssv674333, nssv675595
Samples
Known GenesPKP2
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
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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