A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709664



Internal ID133330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83715965..83720516hg38UCSC Ensembl
chr16:83749570..83754121hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg384552
hg194552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532658
Supporting Variants
Samples
Known GenesCDH13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709664
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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