A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6141478



Internal ID340675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:60913521..60935000hg38UCSC Ensembl
chr9:41499793..41521272hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3821480
hg1921480
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17023013
Samples
Known GenesSPATA31A5, SPATA31A7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6141478
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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