A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3405206



Internal ID19836182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62356335..62356639hg38UCSC Ensembl
chr9:46667636..46667940hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14718242, nssv14717645, nssv14716851, nssv14727392, nssv14731572, nssv14727207
SamplesHG04217, NA12878, HG02818, HG02059, NA19434, NA19240
Known Genes
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 Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3405206
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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