A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540317



Internal ID315104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:143622593..143622651hg38UCSC Ensembl
chr3:143341435..143341493hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16940420
Samples
Known GenesSLC9A9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540317
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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