A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753043



Internal ID20528903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230581559..230581559hg38UCSC Ensembl
chr2:231446274..231446274hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16278937
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753043
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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