A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579424



Internal ID16020147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:36139901..36142743hg38UCSC Ensembl
Innerchr19:36630803..36633645hg19UCSC Ensembl
Innerchr19:41322643..41325485hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg382843
hg192843
hg182843
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv898984
Samples
Known GenesCAPNS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579424
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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