A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3346093



Internal ID19777071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:220902..220902hg38UCSC Ensembl
chr17:70693..70693hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14587013, nssv14576524, nssv14576006, nssv14581427, nssv14578266
SamplesCHM1, NA12878, HX1, HG02059, HG01352
Known GenesRPH3AL
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)nsv3346093
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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