A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471699



Internal ID249429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184787735..184847892hg38UCSC Ensembl
chr4:185708889..185769046hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3860158
hg1960158
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16962236
Samples
Known GenesACSL1, LOC731424, SLED1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471699
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