A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1094812



Internal ID15601312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139879378..139887008hg38UCSC Ensembl
Innerchr7:139579177..139586807hg19UCSC Ensembl
Innerchr7:139225646..139233276hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg387631
hg197631
hg187631
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv608474
Supporting Variants
Samples
Known GenesTBXAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1094812
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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