A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580238



Internal ID16367647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54519000..54641641hg38UCSC Ensembl
Innerchr19:55030183..55153092hg19UCSC Ensembl
Innerchr19:59721995..59844904hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38122642
hg19122910
hg18122910
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6563n54
Supporting Variantsnssv1150189, nssv1150188
SamplesHGDP00388, HGDP00957
Known GenesKIR3DX1, LILRA1, LILRA2, LILRB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580238
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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