A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17162993



Internal ID21428891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76121810..76122121hg38UCSC Ensembl
chr9:78736726..78737037hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5587271
Supporting Variants
SamplesHG00731
Known GenesPCSK5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17162993
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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