A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14812970



Internal ID19547357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:92673691..92676025hg38UCSC Ensembl
chr10:94433448..94435782hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg382335
hg192335
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3330846
Supporting Variants
SamplesHG01352
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
CommentsAbsence of a SVA insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nssv14812970
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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