A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437577



Internal ID216162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8428342..8443635hg38UCSC Ensembl
chr2:8568472..8583765hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3815294
hg1915294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909675
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437577
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