A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578743



Internal ID16019466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:18062031..18069163hg38UCSC Ensembl
Innerchr19:18172841..18179973hg19UCSC Ensembl
Innerchr19:18033841..18040973hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg387133
hg197133
hg187133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv895734
Samples
Known GenesIL12RB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578743
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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