A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv365n54



Internal ID20133789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91750168..92133148hg38UCSC Ensembl
chr1:92215725..92598705hg19UCSC Ensembl
chr1:91988313..92371293hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38382981
hg19382981
hg18382981
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546818, nsv546810, nsv546819, nsv546820
Samples1780862574_A
Known GenesBRDT, BTBD8, EPHX4, TGFBR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv365n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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