A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973588



Internal ID22748523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54715709..54719321hg38UCSC Ensembl
chr12:55109493..55113105hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383613
hg193613
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362900
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973588
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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