A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209323



Internal ID20776363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48007193..48019473hg38UCSC Ensembl
chr3:48048683..48060963hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3812281
hg1912281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6356643
Supporting Variants
Samples
Known GenesMAP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209323
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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