A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499550



Internal ID276518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:48056644..48057363hg38UCSC Ensembl
chr11:48078196..48078915hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38720
hg19720
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17045415
Samples
Known GenesPTPRJ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499550
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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