A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9297n54



Internal ID20142721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143973107..144135334hg38UCSC Ensembl
chr4:144894260..145056487hg19UCSC Ensembl
chr4:145113710..145275937hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38162228
hg19162228
hg18162228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv595615, nsv595613, nsv595614, nsv595611, nsv595610
SamplesHGDP00167, HGDP00113, HGDP00672, HGDP01273, HGDP00106, HGDP00031, HGDP00203, HGDP01341
Known GenesGYPA, GYPB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9297n54
Frequency
Sample Size17421
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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