A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975817



Internal ID22750752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11817551..11818686hg38UCSC Ensembl
chr5:11817663..11818798hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381136
hg191136
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17412402
Samples
Known GenesCTNND2
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975817
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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