A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540247



Internal ID315042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:19953002..19953002hg38UCSC Ensembl
chr3:19994494..19994494hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16930569
Samples
Known GenesRAB5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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