A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17029884



Internal ID87639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:131414000..131576552hg38UCSC Ensembl
chr9:134289387..134451939hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38162553
hg19162553
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141958
Supporting Variants
Samples
Known GenesPOMT1, PRRC2B, SNORD62A, SNORD62B, UCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17029884
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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