A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5692n54



Internal ID22773587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:52943250..53065715hg38UCSC Ensembl
chr17:51020610..51143076hg19UCSC Ensembl
chr17:48375609..48498075hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38122466
hg19122467
hg18122467
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575564, nsv575559
Samples
Known GenesC17orf112
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5692n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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