A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975090



Internal ID22750025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122191442..122373663hg38UCSC Ensembl
chr12:122675989..122858210hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38182222
hg19182222
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365102
Samples
Known GenesB3GNT4, CLIP1, DIABLO, LOC101593348, LRRC43, VPS33A
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975090
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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