A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3396239



Internal ID19480530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45884972..45884972hg38UCSC Ensembl
chr6:45852709..45852709hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14722665, nssv14726382, nssv14713757, nssv14720936, nssv14731974, nssv14731668, nssv14721388
SamplesCHM13, HG02106, CHM1, HG00268, HG02059, NA19240, 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)nsv3396239
Frequency
Sample Size14
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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