A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463813



Internal ID241703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29574023..29588066hg38UCSC Ensembl
chr6:29541800..29555843hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3814044
hg1914044
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982476
Samples
Known GenesOR2H2, SNORD32B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463813
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