A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690351



Internal ID114017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101362526..101363179hg38UCSC Ensembl
chr12:101756304..101756957hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510928
Supporting Variants
Samples
Known GenesUTP20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690351
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.373556


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