A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579902



Internal ID16020625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48208219..48239130hg38UCSC Ensembl
Innerchr19:48711476..48742387hg19UCSC Ensembl
Innerchr19:53403288..53434199hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3830912
hg1930912
hg1830912
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150651
SamplesHGDP01332
Known GenesCARD8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579902
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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