A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555821



Internal ID22424654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13389468..13398643hg38UCSC Ensembl
chr12:13542402..13551577hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg389176
hg199176
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14460419, nssv14461776, nssv14465263, nssv14460280, nssv14455148, nssv14465896, nssv14455921, nssv14462088
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3555821
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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