A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14511816



Internal ID19231518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73270511..73270511hg38UCSC Ensembl
chr10:75030269..75030269hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3328876
Supporting Variants
SamplesHG02106
Known GenesDNAJC9-AS1, TTC18
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)nssv14511816
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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