A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv798915



Internal ID16092871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80524763..80636807hg38UCSC Ensembl
Innerchr12:80918542..81030586hg19UCSC Ensembl
Innerchr12:79442673..79554717hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38112045
hg19112045
hg18112045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559460
Supporting Variants
Samples
Known GenesPTPRQ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv798915
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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