A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495044



Internal ID272168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46646724..46648313hg38UCSC Ensembl
chr11:46668274..46669863hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381590
hg191590
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17045740
Samples
Known GenesATG13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495044
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