A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435794



Internal ID214426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62998540..62998697hg38UCSC Ensembl
chr2:63225675..63225832hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914312
Samples
Known GenesEHBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435794
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