A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561136



Internal ID16348545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132865194..132872229hg38UCSC Ensembl
Innerchr12:133441780..133448815hg19UCSC Ensembl
Innerchr12:131951853..131958888hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg387036
hg197036
hg187036
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv805953
Samples
Known GenesCHFR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561136
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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