A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980132



Internal ID22755067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21873888..24109273hg38UCSC Ensembl
chr12:22026822..24262207hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg382235386
hg192235386
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355534
Samples
Known GenesABCC9, C2CD5, CMAS, ETNK1, SOX5, ST8SIA1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5980132
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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