A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv921n54



Internal ID22768816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248606934..248631809hg38UCSC Ensembl
chr1:248770235..248795110hg19UCSC Ensembl
chr1:246836858..246861733hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3824876
hg1924876
hg1824876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549727, nsv549731, nsv549732, nsv549733, nsv549726
Samples
Known GenesOR2T11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv921n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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