A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14607819



Internal ID19696436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173333857..173334177hg38UCSC Ensembl
chr2:174198585..174198905hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3374254
Supporting Variants
SamplesNA19240
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)nssv14607819
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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