A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4746561



Internal ID20522575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234963009..234978081hg38UCSC Ensembl
chr2:235871653..235886725hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3815073
hg1915073
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16269861
Samples
Known GenesSH3BP4
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4746561
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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