A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3410285



Internal ID19841261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:118634382..118634382hg38UCSC Ensembl
chr9:121396660..121396660hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg384415
hg194415
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14785679, nssv14778717, nssv14774209, nssv14778057
SamplesNA12878, HG02818, HX1, NA19240
Known Genes
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)nsv3410285
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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