A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3407967



Internal ID19838943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:132421612..132421687hg38UCSC Ensembl
chr9:135296999..135297074hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14814338, nssv14814844, nssv14812715, nssv14813976, nssv14813787, nssv14814588, nssv14812921, nssv14812514, nssv14812333, nssv14812170, nssv14813130, nssv14813340, nssv14813528, nssv14814142
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesC9orf171
MethodSequencing
AnalysisRead and contig alignments were done with BLASR. The Celera assembler (8.3rc2) was used to assemble RS II samples (CHM1, CHM13, HG00514, HG00733, NA19240, HG02818, NA19434, HG01352, HG02059, NA12878, and HG04217, and Canu (1.7) was used for Sequel samples (HG02106 and HG00268). Variant calling was performed with SMRT-SV (10.1101/gr.214007.116).
PlatformPacBio RS II P6C4, PacBio Sequel v2.1
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3407967
Frequency
Sample Size14
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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