A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209019



Internal ID20776059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241568996..241736303hg38UCSC Ensembl
chr2:242508411..242675718hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38167308
hg19167308
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351987
Supporting Variants
Samples
Known GenesATG4B, BOK, D2HGDH, DTYMK, ING5, THAP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209019
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