A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468757



Internal ID246549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179751170..179753004hg38UCSC Ensembl
chr5:179178171..179180005hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381835
hg191835
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16979768
Samples
Known GenesMAML1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468757
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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