A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243400



Internal ID22375566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71541193..71552738hg38UCSC Ensembl
chr12:71934973..71946518hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3811546
hg1911546
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14461809, nssv14465843
SamplesNA19239, NA19240
Known GenesLGR5
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243400
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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