A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987844



Internal ID21897187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202896466..202914556hg38UCSC Ensembl
chr2:203761189..203779279hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3818091
hg1918091
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17526942
Samples
Known GenesCARF, WDR12
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987844
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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