A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608475



Internal ID16049198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139959792..139962844hg38UCSC Ensembl
Innerchr7:139659591..139662643hg19UCSC Ensembl
Innerchr7:139306060..139309112hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg383053
hg193053
hg183053
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1094813
Samples
Known GenesTBXAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608475
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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