A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443249



Internal ID221649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52832609..52855972hg38UCSC Ensembl
chr3:52866625..52889988hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3823364
hg1923364
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933808
Samples
Known GenesMIR8064, MUSTN1, TMEM110, TMEM110-MUSTN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443249
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