A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494932



Internal ID272060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44208266..44214115hg38UCSC Ensembl
chr11:44229816..44235665hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg385850
hg195850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046113
Samples
Known GenesEXT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494932
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