A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6141453



Internal ID340649
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 StatusM
Merged Variants
Supporting Variantsnssv17023014
Samples
Known GenesSPATA31A5, SPATA31A7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6141453
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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