A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968441



Internal ID22743376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:77334769..77334834hg38UCSC Ensembl
chr16:77368666..77368731hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387990
Samples
Known GenesADAMTS18
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968441
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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