A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv204n54



Internal ID18992380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25271785..25329047hg38UCSC Ensembl
chr1:25598276..25655538hg19UCSC Ensembl
chr1:25470863..25528125hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3857263
hg1957263
hg1857263
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545837, nsv545836
Samples
Known GenesRHD
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv204n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss23
Observed Complex0
Frequencyn/a


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