A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905387



Internal ID4403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77701146..77701181hg38UCSC Ensembl
chr1:78166831..78166866hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558995
Supporting Variants
Samples
Known GenesUSP33
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905387
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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