A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580294



Internal ID16021017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54770165..54772850hg38UCSC Ensembl
Innerchr19:55281617..55284302hg19UCSC Ensembl
Innerchr19:59973429..59976114hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382686
hg192686
hg182686
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6573n54
Supporting Variantsnssv901716, nssv901715
Samples
Known GenesKIR2DL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580294
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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