A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975346



Internal ID22750281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77409581..77482934hg38UCSC Ensembl
chr9:80024497..80097850hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg3873354
hg1973354
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17443653
Samples
Known GenesGNA14, VPS13A
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975346
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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