A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3384570



Internal ID19468862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:154022433..154022433hg38UCSC Ensembl
chr6:154343568..154343568hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg38838
hg19838
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14749744, nssv14737631
SamplesNA12878, NA19240
Known GenesOPRM1
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)nsv3384570
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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