A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10173n54



Internal ID20143597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172652886..172744267hg38UCSC Ensembl
chr5:172079889..172171270hg19UCSC Ensembl
chr5:172012494..172103875hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3891382
hg1991382
hg1891382
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv600290, nsv600288, nsv600291
SamplesHGDP01259, HGDP00642
Known GenesNEURL1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10173n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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