A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973515



Internal ID22748450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100183930..100188636hg38UCSC Ensembl
chr13:100836184..100840890hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg384707
hg194707
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350523
Samples
Known GenesPCCA
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973515
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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