A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv656n54



Internal ID22768551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179975766..180102852hg38UCSC Ensembl
chr1:179944901..180071987hg19UCSC Ensembl
chr1:178211524..178338610hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38127087
hg19127087
hg18127087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548341, nsv548342, nsv548340, nsv548343, nsv548344
SamplesHGDP00766
Known GenesCEP350
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv656n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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