A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17045407



Internal ID98027
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 StatusS
Merged Variantsnsv5501166
Supporting Variants
Samples
Known GenesPTPRJ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17045407
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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