A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3353227



Internal ID19784205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:71199915..71199915hg38UCSC Ensembl
chr15:71492254..71492254hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14563445, nssv14559889, nssv14566462, nssv14568615, nssv14554767, nssv14560753
SamplesHG02106, HG02818, HG01352, NA19240, HG00733, HG00514
Known GenesTHSD4
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)nsv3353227
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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