A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5431n54



Internal ID22773326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4975665..5051911hg38UCSC Ensembl
chr17:4878960..4955206hg19UCSC Ensembl
chr17:4819684..4895930hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3876247
hg1976247
hg1876247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574276, nsv574277
Samples
Known GenesCAMTA2, INCA1, KIF1C, SLC52A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5431n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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