A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441310



Internal ID219789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234952491..234954356hg38UCSC Ensembl
chr2:235861135..235863000hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg381866
hg191866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927032
Samples
Known GenesSH3BP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441310
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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