A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970433



Internal ID22745368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48114294..48119926hg38UCSC Ensembl
chr13:48688430..48694062hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg385633
hg195633
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379889
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970433
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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