A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968705



Internal ID22743640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131807431..132059968hg38UCSC Ensembl
chr12:132291976..132544513hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38252538
hg19252538
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363314
Samples
Known GenesEP400, MMP17, PUS1, SNORA49, ULK1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968705
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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