A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3384971



Internal ID19815949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3310322..3310380hg38UCSC Ensembl
chr6:3310556..3310614hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14713739, nssv14728213, nssv14716932, nssv14723181, nssv14730388
SamplesCHM13, HG04217, HG00268, HG02818, NA19434
Known GenesSLC22A23
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)nsv3384971
Frequency
Sample Size14
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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