A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3342893



Internal ID19773871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28692263..28692939hg38UCSC Ensembl
chr17:27019281..27019957hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38677
hg19677
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14568839, nssv14559969, nssv14562443
SamplesNA12878, HG01352, NA19240
Known GenesSUPT6H
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)nsv3342893
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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