A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978481



Internal ID22753416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4823260..4833429hg38UCSC Ensembl
chr12:4932426..4942595hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3810170
hg1910170
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366587
Samples
Known GenesKCNA6
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978481
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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