A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18211408



Internal ID20778448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149966601..149970200hg38UCSC Ensembl
chr3:149684388..149687987hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6366191
Supporting Variants
Samples
Known GenesPFN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18211408
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00092


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