A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3328823



Internal ID19759801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:63811399..63811399hg38UCSC Ensembl
chr10:65571159..65571159hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14495276, nssv14501151, nssv14498969, nssv14501694, nssv14503705, nssv14503601, nssv14496262, nssv14511023, nssv14509878, nssv14502145
SamplesHG02106, HG04217, HG00268, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
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)nsv3328823
Frequency
Sample Size14
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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