A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv531n54



Internal ID18992707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145689573..145824903hg38UCSC Ensembl
chr1:145610210..145745492hg19UCSC Ensembl
chr1:144321567..144456849hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38135331
hg19135283
hg18135283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547664, nsv547660
SamplesHGDP00766
Known GenesCD160, LOC100288142, NBPF10, PDZK1, POLR3C, RNF115
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv531n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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