A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6573n54



Internal ID20139997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54770165..54773406hg38UCSC Ensembl
chr19:55281617..55284858hg19UCSC Ensembl
chr19:59973429..59976670hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg383242
hg193242
hg183242
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv580296, nsv580294, nsv580295
Samples
Known GenesKIR2DL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6573n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss17
Observed Complex0
Frequencyn/a


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