A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6483n54



Internal ID22774378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42915758..43089269hg38UCSC Ensembl
chr19:43419910..43593421hg19UCSC Ensembl
chr19:48111750..48285261hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38173512
hg19173512
hg18173512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv579746, nsv579741
SamplesHGDP00330
Known GenesPSG11, PSG2, PSG6, PSG7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6483n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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