A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690544



Internal ID114210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104814327..104814446hg38UCSC Ensembl
chr12:105208105..105208224hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500159
Supporting Variants
Samples
Known GenesSLC41A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690544
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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