A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv798923



Internal ID16092879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:81728109..81748069hg38UCSC Ensembl
Innerchr12:82121888..82141848hg19UCSC Ensembl
Innerchr12:80646019..80665979hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3819961
hg1919961
hg1819961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559469
Supporting Variants
Samples
Known GenesPPFIA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv798923
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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