A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348969



Internal ID21006522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168722901..168727500hg38UCSC Ensembl
chr2:169579411..169584010hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg384600
hg194600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207378
Samples
Known GenesCERS6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348969
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