A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17029352



Internal ID87259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:2613782..3185857hg38UCSC Ensembl
chr10:2655974..3228049hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38572076
hg19572076
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484972
Supporting Variants
Samples
Known GenesPFKP, PITRM1, PITRM1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17029352
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