A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3390378



Internal ID19474669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13925070..13925070hg38UCSC Ensembl
chr6:13925301..13925301hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14724956, nssv14725122, nssv14724817, nssv14726504, nssv14728081, nssv14731148, nssv14718814, nssv14719169, nssv14730647, nssv14723397, nssv14723743, nssv14728797, nssv14729599, nssv14728090
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesRNF182
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)nsv3390378
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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