A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3391247



Internal ID19822224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:85158960..85158960hg38UCSC Ensembl
chr6:85868678..85868678hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14727147, nssv14713579, nssv14720333, nssv14720494, nssv14716365
SamplesHG02106, HX1, HG02059, NA19434, HG00733
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)nsv3391247
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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