A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5587800



Internal ID21536359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30236274..30239432hg38UCSC Ensembl
chr13:30810411..30813569hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg383159
hg193159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17080477
SamplesHG03732
Known GenesKATNAL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5587800
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer