A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461517



Internal ID239466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:165328271..165328655hg38UCSC Ensembl
chr5:164755277..164755661hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975354
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461517
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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