A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3326048



Internal ID19757026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:103909377..103909377hg38UCSC Ensembl
chr10:105669135..105669135hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14503411, nssv14511494, nssv14508929
SamplesHG02106, CHM1, HG00733
Known GenesOBFC1
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)nsv3326048
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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