A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14638708



Internal ID19558614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201766723..201766723hg38UCSC Ensembl
chr2:202631446..202631446hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3362359
Supporting Variants
SamplesHG02059
Known GenesALS2
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)nssv14638708
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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