A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6109195



Internal ID22018428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223611646..223675626hg38UCSC Ensembl
chr1:223799348..223863328hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3863981
hg1963981
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17517568
Samples
Known GenesCAPN8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6109195
Frequency
Sample Size405
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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