A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3344785



Internal ID19775763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112988813..112988813hg38UCSC Ensembl
chr13:113643127..113643127hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14542453, nssv14549819, nssv14536676, nssv14534898, nssv14551230, nssv14546232, nssv14547555, nssv14551111
SamplesCHM13, HG02106, CHM1, HG00268, NA12878, HG02818, HG01352, HG00733
Known GenesMCF2L
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)nsv3344785
Frequency
Sample Size14
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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