A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6580n54



Internal ID20140004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54790359..54881299hg38UCSC Ensembl
chr19:55301811..55392755hg19UCSC Ensembl
chr19:59993623..60084567hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3890941
hg1990945
hg1890945
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv580335, nsv580330, nsv580334, nsv580333
SamplesNINDS_237, NINDS_114
Known GenesFCAR, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6580n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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