A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976483



Internal ID22751418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131438916..131651239hg38UCSC Ensembl
chr12:131923461..132135784hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38212324
hg19212324
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv470n209
Supporting Variantsnssv17358462
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976483
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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