A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209767



Internal ID20776808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42484360..42536373hg38UCSC Ensembl
chr2:42711500..42763513hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3852014
hg1952014
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6338671
Supporting Variants
Samples
Known GenesKCNG3, MTA3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209767
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