A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6488n54



Internal ID22774383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42979717..43222743hg38UCSC Ensembl
chr19:43483869..43726895hg19UCSC Ensembl
chr19:48175709..48418735hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38243027
hg19243027
hg18243027
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv579772, nsv579768
Samples1782681164_A, HGDP00696, HGDP01274, 1780854499_A
Known GenesLOC284344, PSG11, PSG2, PSG4, PSG5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6488n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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