A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055068



Internal ID104546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6947731..6949185hg38UCSC Ensembl
chr12:7056894..7058348hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381455
hg191455
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504850
Supporting Variants
Samples
Known GenesPTPN6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055068
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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