A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579912



Internal ID16020635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49940804..50059982hg38UCSC Ensembl
Innerchr19:50444061..50563239hg19UCSC Ensembl
Innerchr19:55135873..55255051hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38119179
hg19119179
hg18119179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv899994
Samples
Known GenesFLJ26850, SIGLEC11, SIGLEC16, VRK3, ZNF473
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579912
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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