A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv105n54



Internal ID20133529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10613037..10736809hg38UCSC Ensembl
chr1:10673094..10796866hg19UCSC Ensembl
chr1:10595681..10719453hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38123773
hg19123773
hg18123773
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545402, nsv545399, nsv545398, nsv545396, nsv545397
Samples1780862093_A, 1780862573_A
Known GenesCASZ1, PEX14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv105n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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