A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579678



Internal ID16367087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42813916..43158934hg38UCSC Ensembl
Innerchr19:43318068..43663086hg19UCSC Ensembl
Innerchr19:48009908..48354926hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38345019
hg19345019
hg18345019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6467n54
Supporting Variantsnssv899682
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG6, PSG7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579678
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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