A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967610



Internal ID22742545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:57192370..57252549hg38UCSC Ensembl
chr8:58104929..58165108hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3860180
hg1960180
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17446769
Samples
Known GenesLOC100507651
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967610
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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