A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560931



Internal ID16001654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131842314..131934988hg38UCSC Ensembl
Innerchr12:132326859..132419533hg19UCSC Ensembl
Innerchr12:130892812..130985486hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3892675
hg1992675
hg1892675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176439
Samples1780862021_A
Known GenesMMP17, PUS1, ULK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560931
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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