A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971756



Internal ID22746691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:177669105..179519336hg38UCSC Ensembl
chr3:177386893..179237124hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg381850232
hg191850232
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17423075
Samples
Known GenesGNB4, KCNMB2, KCNMB3, LINC00578, LINC01014, MFN1, PIK3CA, ZMAT3, ZNF639
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971756
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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