A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18091723



Internal ID20658763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100417515..100420830hg38UCSC Ensembl
chr3:100136359..100139674hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg383316
hg193316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6370709
Supporting Variants
Samples
Known GenesLNP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18091723
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00046


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