A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014564



Internal ID77383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94491159..94491159hg38UCSC Ensembl
chr8:95503387..95503387hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536822
Supporting Variants
Samples
Known GenesKIAA1429
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014564
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.145048


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