A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247411



Internal ID22376707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149820003..149876338hg38UCSC Ensembl
chr1:149791558..149847888hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3856336
hg1956331
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14459547, nssv14461743, nssv14467524, nssv14458433, nssv14462481, nssv14463610, nssv14457358, nssv14459736, nssv14464881
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesHIST2H2AA3, HIST2H2AA4, HIST2H2BC, HIST2H3A, HIST2H3C, HIST2H4A, HIST2H4B
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247411
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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