A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048312



Internal ID100080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73211796..73240429hg38UCSC Ensembl
chr11:72922841..72951474hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3828634
hg1928634
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510822
Supporting Variants
Samples
Known GenesP2RY2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048312
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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