A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14502684



Internal ID19480733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70845657..70845657hg38UCSC Ensembl
chr10:72605414..72605414hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3329998
Supporting Variants
SamplesHG00514
Known GenesSGPL1
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)nssv14502684
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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