A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3344378



Internal ID19428670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:78768024..78768024hg38UCSC Ensembl
chr15:79060366..79060366hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14567230, nssv14566341, nssv14559432
SamplesHG02106, HG02059, NA19240
Known GenesADAMTS7
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)nsv3344378
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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