A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580349



Internal ID16021072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55807428..56027874hg38UCSC Ensembl
Innerchr19:56318794..56539240hg19UCSC Ensembl
Innerchr19:61010606..61231052hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38220447
hg19220447
hg18220447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6582n54
Supporting Variantsnssv901817
Samples
Known GenesNLRP11, NLRP13, NLRP4, NLRP5, NLRP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580349
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer