A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16899543



Internal ID475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245264936..245264936hg38UCSC Ensembl
chr1:245428238..245428238hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542114
Supporting Variants
Samples
Known GenesKIF26B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16899543
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005472


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