A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503817



Internal ID280631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:68000412..68000942hg38UCSC Ensembl
chr11:67767882..67768412hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38531
hg19531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046297
Samples
Known GenesUNC93B1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503817
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