A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688946



Internal ID112612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70751052..70751088hg38UCSC Ensembl
chr12:71144832..71144868hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535677
Supporting Variants
Samples
Known GenesPTPRR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688946
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.009835


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