A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17085312



Internal ID21446085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:510302..510302hg38UCSC Ensembl
chr17:413542..413542hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38868
hg19868
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5651865
Supporting Variants
SamplesHG00732
Known GenesVPS53
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17085312
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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