A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17703035



Internal ID126701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:49261239..49261267hg38UCSC Ensembl
chr15:49553436..49553464hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548725
Supporting Variants
Samples
Known GenesGALK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17703035
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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