A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580350



Internal ID16021073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55842298..56003968hg38UCSC Ensembl
Innerchr19:56353664..56515334hg19UCSC Ensembl
Innerchr19:61045476..61207146hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38161671
hg19161671
hg18161671
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6582n54
Supporting Variantsnssv1150382
SamplesHGDP00705
Known GenesNLRP13, NLRP4, NLRP5, NLRP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580350
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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