A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706329



Internal ID129995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28485964..28486930hg38UCSC Ensembl
chr16:28497285..28498251hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38967
hg19967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533036
Supporting Variants
Samples
Known GenesCLN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706329
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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