A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578378



Internal ID16019101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2014209..2015437hg38UCSC Ensembl
Innerchr19:2014208..2015436hg19UCSC Ensembl
Innerchr19:1965208..1966436hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381229
hg191229
hg181229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6216n54
Supporting Variantsnssv892067
Samples
Known GenesBTBD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578378
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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