A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593075



Internal ID16380484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196222670..196223619hg38UCSC Ensembl
Innerchr3:195949541..195950490hg19UCSC Ensembl
Innerchr3:197433938..197434887hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38950
hg19950
hg18950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8848n54
Supporting Variantsnssv986893
Samples
Known GenesSLC51A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593075
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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