A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464718



Internal ID242589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134866168..134869558hg38UCSC Ensembl
chr5:134201858..134205248hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383391
hg193391
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975077
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464718
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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