A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461592



Internal ID239540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:118498172..118965499hg38UCSC Ensembl
chr5:117833867..118301194hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38467328
hg19467328
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973026
Samples
Known GenesDTWD2, LOC101927280, LOC102467225
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461592
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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