A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016943



Internal ID78955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:113168036..113168167hg38UCSC Ensembl
chr8:114180265..114180396hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492385
Supporting Variants
Samples
Known GenesCSMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016943
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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