A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580346



Internal ID16021069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55735154..55857948hg38UCSC Ensembl
Innerchr19:56246520..56369314hg19UCSC Ensembl
Innerchr19:60938332..61061126hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38122795
hg19122795
hg18122795
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv901814
Samples
Known GenesNLRP11, NLRP4, NLRP9, RFPL4A, RFPL4AL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580346
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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