A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579785



Internal ID16367194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43089269..43191688hg38UCSC Ensembl
Innerchr19:43593421..43695840hg19UCSC Ensembl
Innerchr19:48285261..48387680hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38102420
hg19102420
hg18102420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6492n54
Supporting Variantsnssv1151032
SamplesHGDP00912
Known GenesPSG5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579785
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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