A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456499



Internal ID234562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150599006..150599113hg38UCSC Ensembl
chr5:149978568..149978675hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974786
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456499
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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