A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3385598



Internal ID19816576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197518799..197518799hg38UCSC Ensembl
chr3:197245670..197245670hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14674676, nssv14676646, nssv14673293, nssv14683537, nssv14682200, nssv14681216, nssv14688948
SamplesHG04217, HG00268, HG02818, HX1, HG02059, HG01352, HG00514
Known GenesBDH1
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)nsv3385598
Frequency
Sample Size14
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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