A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901852



Internal ID2032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46310780..46313350hg38UCSC Ensembl
chr1:46776452..46779022hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg382571
hg192571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418025
Supporting Variants
Samples
Known GenesUQCRH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901852
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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