A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14714794



Internal ID19629215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:138272947..138273010hg38UCSC Ensembl
chr11:139531..139594hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3403389
Supporting Variants
SamplesHG04217
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)nssv14714794
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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