A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5490281



Internal ID267540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56000706..56001180hg38UCSC Ensembl
chr8:56913265..56913739hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011708
Samples
Known GenesLYN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5490281
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