A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3346367



Internal ID19777345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:74987682..74988025hg38UCSC Ensembl
chr13:75561819..75562162hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14544267, nssv14546214, nssv14535566, nssv14549108
SamplesCHM13, HG04217, HG00268, HX1
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)nsv3346367
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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