A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6461n54



Internal ID22774356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42752863..42866627hg38UCSC Ensembl
chr19:43257015..43370779hg19UCSC Ensembl
chr19:47948855..48062619hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38113765
hg19113765
hg18113765
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv579638, nsv579643, nsv579639, nsv579647, nsv579634, nsv579641, nsv579635, nsv579640, nsv579645
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6461n54
Frequency
Sample Size17421
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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