A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5400n54



Internal ID22773295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:948992..952716hg38UCSC Ensembl
chr17:852232..855956hg19UCSC Ensembl
chr17:798982..802706hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg383725
hg193725
hg183725
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574129, nsv574138, nsv574124, nsv574139
Samples
Known GenesNXN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5400n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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