A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972919



Internal ID22747854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99187920..99192352hg38UCSC Ensembl
chr12:99581698..99586130hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg384433
hg194433
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17352308
Samples
Known GenesANKS1B
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972919
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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