A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608473



Internal ID16049196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139792168..139839419hg38UCSC Ensembl
Innerchr7:139491967..139539218hg19UCSC Ensembl
Innerchr7:139138436..139185687hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3847252
hg1947252
hg1847252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156029
Samples1780854063_A
Known GenesTBXAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608473
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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