A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv533n54



Internal ID18992709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145687602..145809105hg38UCSC Ensembl
chr1:145625979..145747463hg19UCSC Ensembl
chr1:144337336..144458820hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38121504
hg19121485
hg18121485
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547667, nsv547668, nsv547663, nsv547672
SamplesHGDP01406
Known GenesCD160, LOC100288142, NBPF10, PDZK1, RNF115
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv533n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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