A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593076



Internal ID16380485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196222670..196223670hg38UCSC Ensembl
Innerchr3:195949541..195950541hg19UCSC Ensembl
Innerchr3:197433938..197434938hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8848n54
Supporting Variantsnssv986898, nssv986894, nssv986899, nssv986904, nssv986903, nssv986896, nssv986900, nssv986902, nssv986897, nssv986901, nssv986905, nssv986895
Samples
Known GenesSLC51A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593076
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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