A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509001



Internal ID285672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:67574351..67578270hg38UCSC Ensembl
chr13:68148483..68152402hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg383920
hg193920
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17691691
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509001
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