A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918859



Internal ID13345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135819321..135819372hg38UCSC Ensembl
chr2:136576891..136576942hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400290
Supporting Variants
Samples
Known GenesLCT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918859
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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