A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17084864



Internal ID21484808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76347404..76355999hg38UCSC Ensembl
chr17:74343485..74352080hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg388596
hg198596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5600588
Supporting Variants
SamplesNA12329
Known GenesPRPSAP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17084864
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