A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340452



Internal ID20998005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203327901..203329100hg38UCSC Ensembl
chr2:204192624..204193823hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208078
Samples
Known GenesABI2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340452
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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