A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058988



Internal ID18801519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55871126..56097663hg38UCSC Ensembl
Innerchr19:56382492..56609032hg19UCSC Ensembl
Innerchr19:61074304..61300844hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38226538
hg19226541
hg18226541
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3680n100
Supporting Variantsnssv3570440
Samples
Known GenesNLRP13, NLRP4, NLRP5, NLRP8, ZNF787
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058988
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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