A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580351



Internal ID16367760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55928072..55987427hg38UCSC Ensembl
Innerchr19:56439438..56498793hg19UCSC Ensembl
Innerchr19:61131250..61190605hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3859356
hg1959356
hg1859356
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv901818
Samples
Known GenesNLRP13, NLRP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580351
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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