A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705794



Internal ID129460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23358728..23360024hg38UCSC Ensembl
chr16:23370049..23371345hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg381297
hg191297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518852
Supporting Variants
Samples
Known GenesSCNN1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17705794
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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