A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6056766



Internal ID21966000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:19998352..19998352hg38UCSC Ensembl
chr2:20198113..20198113hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519443
Samples
Known GenesMATN3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6056766
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