A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3348774



Internal ID19433066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:64979448..64979573hg38UCSC Ensembl
chr16:65013351..65013476hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14766619
SamplesNA19434
Known GenesCDH11
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 L1 insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3348774
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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