A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526287



Internal ID8420562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32827083..32835041hg38UCSC Ensembl
Innerchr12:32980017..32987975hg19UCSC Ensembl
Innerchr12:32871284..32879242hg18UCSC Ensembl
Innerchr12:32871284..32879242hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg387959
hg197959
hg187959
hg177959
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702567
Samples
Known GenesPKP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526287
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer