A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690696



Internal ID114362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112909434..112910261hg38UCSC Ensembl
chr12:113347239..113348066hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38828
hg19828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496430
Supporting Variants
Samples
Known GenesOAS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690696
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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