A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533036



Internal ID308934
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 StatusM
Merged Variants
Supporting Variantsnssv17706329
Samples
Known GenesCLN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533036
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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