A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14793207



Internal ID19611613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:91389475..91389645hg38UCSC Ensembl
chr10:93149232..93149402hg19UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3330214
Supporting Variants
SamplesHG02818
Known GenesLOC100188947
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
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nssv14793207
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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