A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17140149



Internal ID21473328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54084133..54084133hg38UCSC Ensembl
chr8:54996693..54996693hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5626769
Supporting Variants
SamplesHG03371
Known GenesLYPLA1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17140149
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