A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972334



Internal ID48916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94608450..94608465hg38UCSC Ensembl
chr5:93944155..93944170hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543274
Supporting Variants
Samples
Known GenesKIAA0825
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972334
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.237155


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