A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208317



Internal ID20775357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202872773..202879988hg38UCSC Ensembl
chr2:203737496..203744711hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg387216
hg197216
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6345782
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208317
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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