A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560266



Internal ID16000989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113084969..113136469hg38UCSC Ensembl
Innerchr12:113522774..113574274hg19UCSC Ensembl
Innerchr12:112007157..112058657hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3851501
hg1951501
hg1851501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv802727
Samples
Known GenesDTX1, RASAL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560266
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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