A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17026032



Internal ID85088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:81918552..81947776hg38UCSC Ensembl
chr9:84533467..84562691hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg3829225
hg1929225
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141785
Supporting Variants
Samples
Known GenesSPATA31D3, SPATA31D4, SPATA31D5P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17026032
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003829


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