A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5758n54



Internal ID20139182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69260021..69331665hg38UCSC Ensembl
chr17:67256162..67327806hg19UCSC Ensembl
chr17:64767757..64839401hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3871645
hg1971645
hg1871645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575936, nsv575935
SamplesNINDS_95
Known GenesABCA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5758n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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