A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485499



Internal ID262888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69069347..69073303hg38UCSC Ensembl
chr8:69981582..69985538hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg383957
hg193957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011935
Samples
Known GenesLOC100505718
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485499
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