A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17026316



Internal ID85280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:112388798..112388798hg38UCSC Ensembl
chr9:115151078..115151078hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409133
Supporting Variants
Samples
Known GenesHSDL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17026316
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.037919


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