A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974932



Internal ID22749867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70050413..70058706hg38UCSC Ensembl
chr8:70962648..70970941hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg388294
hg198294
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17442421
Samples
Known GenesPRDM14
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974932
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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