A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14461809



Internal ID22296305
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243400
Supporting Variants
SamplesNA19240
Known GenesLGR5
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14461809
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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