A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3360698



Internal ID19791676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183017820..183017820hg38UCSC Ensembl
chr3:182735608..182735608hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14680342, nssv14691680, nssv14681477, nssv14683375, nssv14678182, nssv14683047, nssv14683692, nssv14685315, nssv14691633, nssv14683538, nssv14686492, nssv14686751, nssv14685549, nssv14686450
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesMCCC1
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)nsv3360698
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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