A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684755



Internal ID108421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117635495..117646418hg38UCSC Ensembl
chr12:118073300..118084223hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3810924
hg1910924
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496639
Supporting Variants
Samples
Known GenesKSR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684755
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer