A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707653



Internal ID131319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30042025..30056258hg38UCSC Ensembl
chr16:30053346..30067579hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3814234
hg1914234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519066
Supporting Variants
Samples
Known GenesALDOA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707653
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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