A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944677



Internal ID30463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:180920690..180920731hg38UCSC Ensembl
chr3:180638478..180638519hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552816
Supporting Variants
Samples
Known GenesFXR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944677
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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