A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894716



Internal ID170646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202894866..202894917hg38UCSC Ensembl
chr1:202863994..202864045hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5397137
Supporting Variants
Samples
Known GenesKLHL12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894716
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001873


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