A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514962



Internal ID291450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:77029633..77076967hg38UCSC Ensembl
chr15:77321974..77369309hg19UCSC Ensembl
Cytoband15q24.3
Allele length
AssemblyAllele length
hg3847335
hg1947336
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17702101
Samples
Known GenesPSTPIP1, TSPAN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514962
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