A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461979



Internal ID239918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72188493..72190822hg38UCSC Ensembl
chr5:71484320..71486649hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382330
hg192330
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967503
Samples
Known GenesMAP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461979
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer