A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3395624



Internal ID19826601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:113380315..113380315hg38UCSC Ensembl
chr6:113701517..113701517hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14715078, nssv14729420, nssv14716942, nssv14713915, nssv14730924, nssv14722692, nssv14719549
SamplesCHM13, HG02106, HG04217, NA12878, HG02818, HG00733, HG00514
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)nsv3395624
Frequency
Sample Size14
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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