A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14505136



Internal ID19528635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:103583768..103583768hg38UCSC Ensembl
chr10:105343525..105343525hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3326683
Supporting Variants
SamplesHG01352
Known GenesNEURL1
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)nssv14505136
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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