A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477723



Internal ID255294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:97429271..97444025hg38UCSC Ensembl
chr10:99189028..99203782hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg3814755
hg1914755
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17037609
Samples
Known GenesEXOSC1, PGAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5477723
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