A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579900



Internal ID16020623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48019612..48033524hg38UCSC Ensembl
Innerchr19:48522869..48536781hg19UCSC Ensembl
Innerchr19:53214681..53228593hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3813913
hg1913913
hg1813913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv899986
Samples
Known GenesCABP5, ELSPBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579900
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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