A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5192n54



Internal ID20138616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75901127..76701352hg38UCSC Ensembl
chr16:75935025..76735249hg19UCSC Ensembl
chr16:74492526..75292750hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38800226
hg19800225
hg18800225
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv572996, nsv572995
Samples
Known GenesCNTNAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5192n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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