A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414236



Internal ID193522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150117415..150117622hg38UCSC Ensembl
chr1:150089533..150089740hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891136
Samples
Known GenesVPS45
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414236
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