A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv901n54



Internal ID22768796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247991259..247992153hg38UCSC Ensembl
chr1:248154561..248155455hg19UCSC Ensembl
chr1:246221184..246222078hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38895
hg19895
hg18895
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549611, nsv549610, nsv549606, nsv549608, nsv549607, nsv549612, nsv549609
Samples
Known GenesOR2L13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv901n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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