A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579903



Internal ID16367312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48243424..48258167hg38UCSC Ensembl
Innerchr19:48746681..48761424hg19UCSC Ensembl
Innerchr19:53438493..53453236hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3814744
hg1914744
hg1814744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150652
SamplesHGDP00734
Known GenesCARD8, LOC100505812
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579903
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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