A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689502



Internal ID113168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81265120..81265171hg38UCSC Ensembl
chr12:81658899..81658950hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507252
Supporting Variants
Samples
Known GenesPPFIA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689502
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002033


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