A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17023243



Internal ID83216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69708552..69718552hg38UCSC Ensembl
chr9:72323468..72333468hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484286
Supporting Variants
Samples
Known GenesPTAR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17023243
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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