A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608476



Internal ID16049199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139996449..140017400hg38UCSC Ensembl
Innerchr7:139696248..139717200hg19UCSC Ensembl
Innerchr7:139342717..139363669hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3820952
hg1920953
hg1820953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11622n54
Supporting Variantsnssv1094814
Samples
Known GenesTBXAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608476
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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