A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv532n54



Internal ID20133956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145624561..145813526hg38UCSC Ensembl
chr1:145621567..145810495hg19UCSC Ensembl
chr1:144332924..144521852hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38188966
hg19188929
hg18188929
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547666, nsv547661, nsv547669
Samples
Known GenesCD160, GPR89A, LOC100288142, NBPF10, PDZK1, RNF115
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv532n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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