A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv34n54



Internal ID22767929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1449831..1504314hg38UCSC Ensembl
chr1:1385211..1439694hg19UCSC Ensembl
chr1:1375074..1429557hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3854484
hg1954484
hg1854484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545003, nsv545004, nsv545009, nsv545008, nsv545007, nsv545005, nsv545002, nsv545006
Samples
Known GenesATAD3B, ATAD3C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv34n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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