A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463462



Internal ID241365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120526761..120704488hg38UCSC Ensembl
chr5:119862456..120040183hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38177728
hg19177728
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973059
Samples
Known GenesPRR16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463462
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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