A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462922



Internal ID240841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:57272910..57701200hg38UCSC Ensembl
chr4:58139076..58567366hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38428291
hg19428291
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16951167
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462922
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