A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058630



Internal ID106950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53105838..53105889hg38UCSC Ensembl
chr12:53499622..53499673hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5544845
Supporting Variants
Samples
Known GenesSOAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058630
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.252765


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