A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6142617



Internal ID341818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98948236..98948294hg38UCSC Ensembl
chr8:99960464..99960522hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016135
Samples
Known GenesOSR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6142617
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