A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14696394



Internal ID19684606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56380323..56380323hg38UCSC Ensembl
chr5:55676150..55676150hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382755
hg192755
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3395424
Supporting Variants
SamplesNA12878
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)nssv14696394
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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