A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542477



Internal ID311431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113408045..113408047hg38UCSC Ensembl
chr5:112743742..112743744hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972325
Samples
Known GenesMCC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542477
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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