A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv48n54



Internal ID20133472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2151050..2251031hg38UCSC Ensembl
chr1:2082489..2182470hg19UCSC Ensembl
chr1:2072349..2172330hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3899982
hg1999982
hg1899982
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545063, nsv545065
Samples1780862101_A
Known GenesC1orf86, PRKCZ, SKI
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv48n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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