A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv638n54



Internal ID22768533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178690363..178707830hg38UCSC Ensembl
chr1:178659498..178676965hg19UCSC Ensembl
chr1:176926121..176943588hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3817468
hg1917468
hg1817468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548256, nsv548258, nsv548257, nsv548259
SamplesHGDP00943, HGDP01415, HGDP00913
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv638n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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