A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523953



Internal ID15451246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80432407..80561079hg38UCSC Ensembl
Innerchr12:80826187..80954858hg19UCSC Ensembl
Innerchr12:79350318..79478989hg18UCSC Ensembl
Innerchr12:79328655..79457326hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38128673
hg19128672
hg18128672
hg17128672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699802
Samples
Known GenesPTPRQ
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523953
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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