A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500100



Internal ID277046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41132000..41193553hg38UCSC Ensembl
chr13:41706136..41767689hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3861554
hg1961554
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687137
Samples
Known GenesKBTBD6, KBTBD7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500100
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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