A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5197n54



Internal ID22773092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:76414305..76417345hg38UCSC Ensembl
chr16:76448202..76451242hg19UCSC Ensembl
chr16:75005703..75008743hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg383041
hg193041
hg183041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv573029, nsv573028, nsv573030
Samples
Known GenesCNTNAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5197n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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