A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593085



Internal ID16380494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196334962..196337052hg38UCSC Ensembl
Innerchr3:196061833..196063923hg19UCSC Ensembl
Innerchr3:197546230..197548320hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382091
hg192091
hg182091
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv986953, nssv986952, nssv986950, nssv986951
Samples
Known GenesTM4SF19, TM4SF19-TCTEX1D2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593085
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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