A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591676



Internal ID16379085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129739861..129748669hg38UCSC Ensembl
Innerchr3:129458704..129467512hg19UCSC Ensembl
Innerchr3:130941394..130950202hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg388809
hg198809
hg188809
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv973182
Samples
Known GenesTMCC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591676
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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