A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684332



Internal ID107998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108823709..108823947hg38UCSC Ensembl
chr12:109217485..109217723hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500718
Supporting Variants
Samples
Known GenesSSH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684332
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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