A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560494



Internal ID16001217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122993831..123076184hg38UCSC Ensembl
Innerchr12:123478378..123560731hg19UCSC Ensembl
Innerchr12:122044331..122126684hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3882354
hg1982354
hg1882354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803651
Samples
Known GenesMIR4304, PITPNM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560494
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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