A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578169



Internal ID16018892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:811320..812026hg38UCSC Ensembl
Innerchr19:811320..812026hg19UCSC Ensembl
Innerchr19:762320..763026hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38707
hg19707
hg18707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv891237
Samples
Known GenesPTBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578169
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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