A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3329785



Internal ID19760763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114519963..114519963hg38UCSC Ensembl
chr11:114390685..114390685hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14524569, nssv14515078
SamplesHG04217, HG00733
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
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3329785
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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