A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3326147



Internal ID19757125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:120902673..120902673hg38UCSC Ensembl
chr10:122662185..122662185hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg386064
hg196064
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14507043, nssv14499666
SamplesHG02818, NA19434
Known GenesMIR5694, WDR11
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)nsv3326147
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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