A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505283



Internal ID282066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77982316..77985930hg38UCSC Ensembl
chr13:78556451..78560065hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg383615
hg193615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693229
Samples
Known GenesLINC01069
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505283
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