A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5195n54



Internal ID20138619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:76237670..76284743hg38UCSC Ensembl
chr16:76271568..76318640hg19UCSC Ensembl
chr16:74829069..74876141hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3847074
hg1947073
hg1847073
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv573019, nsv573017, nsv573018, nsv573020
Samples
Known GenesCNTNAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5195n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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