A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv747n54



Internal ID22768642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196801995..196930960hg38UCSC Ensembl
chr1:196771125..196900090hg19UCSC Ensembl
chr1:195037748..195166713hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38128966
hg19128966
hg18128966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548817, nsv548813, nsv548824, nsv548814, nsv548823
Samples
Known GenesCFHR1, CFHR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv747n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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