A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378169



Internal ID22436039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:24646334..25024564hg38UCSC Ensembl
chr13:25220472..25598702hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38378231
hg19378231
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5979667
Supporting Variants
Samples
Known GenesATP12A, CENPJ, RNF17, TPTE2P1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378169
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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