A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3321005



Internal ID19751983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186857181..186857181hg38UCSC Ensembl
chr1:186826313..186826313hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14479690, nssv14477810, nssv14479560, nssv14474141, nssv14487388, nssv14482258, nssv14474910, nssv14487209, nssv14474909, nssv14476826, nssv14479904, nssv14485687, nssv14485348, nssv14482638
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesPLA2G4A
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)nsv3321005
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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