A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501166



Internal ID278074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47993347..47993967hg38UCSC Ensembl
chr11:48014899..48015519hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38621
hg19621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17045407
Samples
Known GenesPTPRJ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501166
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