A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17023014



Internal ID83047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:60914000..60922000hg38UCSC Ensembl
chr9:41500272..41508272hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141453
Supporting Variants
Samples
Known GenesSPATA31A5, SPATA31A7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17023014
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000268


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