A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14473894



Internal ID19628756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58578888..58579065hg38UCSC Ensembl
chr1:59044560..59044737hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3324021
Supporting Variants
SamplesHG04217
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 Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nssv14473894
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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