A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684352



Internal ID108018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109067724..109067775hg38UCSC Ensembl
chr12:109505529..109505580hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559226
Supporting Variants
Samples
Known GenesUSP30
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684352
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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