A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17021161



Internal ID81746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:8865000..8872000hg38UCSC Ensembl
chr9:8865000..8872000hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg387001
hg197001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5480440
Supporting Variants
Samples
Known GenesPTPRD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17021161
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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