A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3344587



Internal ID19775565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:116944..116944hg38UCSC Ensembl
chr3:197896211..197896211hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14585848, nssv14582689, nssv14582228
SamplesHG02106, CHM1, HG00268
Known GenesFAM157A
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)nsv3344587
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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