A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209000



Internal ID20776040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240670701..240799700hg38UCSC Ensembl
chr2:241610118..241739117hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38129000
hg19129000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6343113
Supporting Variants
Samples
Known GenesAQP12A, AQP12B, KIF1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209000
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00144


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