A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578379



Internal ID16019102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2014317..2015437hg38UCSC Ensembl
Innerchr19:2014316..2015436hg19UCSC Ensembl
Innerchr19:1965316..1966436hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381121
hg191121
hg181121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6217n54
Supporting Variantsnssv892068
Samples
Known GenesBTBD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578379
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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