A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3358141



Internal ID19789119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36079601..36110500hg38UCSC Ensembl
chr17:34406959..34437893hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3830900
hg1930935
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14589393, nssv14584691
SamplesNA19434, NA19240
Known GenesCCL3, CCL4
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)nsv3358141
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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