A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6549n54



Internal ID20139973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54219677..54336316hg38UCSC Ensembl
chr19:54723546..54847587hg19UCSC Ensembl
chr19:59415358..59539399hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38116640
hg19124042
hg18124042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv580198, nsv580156, nsv580194, nsv580195, nsv580197, nsv580196
Samples
Known GenesLILRA3, LILRA4, LILRA5, LILRA6, LILRB2, LILRB3, LILRB5, MIR4752
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6549n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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