A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17038478



Internal ID93380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:100528429..100531760hg38UCSC Ensembl
chr10:102288186..102291517hg19UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg383332
hg193332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5491286
Supporting Variants
Samples
Known GenesNDUFB8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17038478
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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