A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608477



Internal ID16049200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139997244..140018347hg38UCSC Ensembl
Innerchr7:139697043..139718147hg19UCSC Ensembl
Innerchr7:139343512..139364616hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3821104
hg1921105
hg1821105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11622n54
Supporting Variantsnssv1094815
Samples
Known GenesTBXAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608477
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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