A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3397430



Internal ID19828407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72447090..72447090hg38UCSC Ensembl
chr3:72496241..72496241hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38490
hg19490
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14657075, nssv14663728, nssv14652379, nssv14656923, nssv14656289, nssv14669177, nssv14664779, nssv14656352, nssv14665929, nssv14656369, nssv14663202, nssv14659835, nssv14655620, nssv14666543
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
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
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3397430
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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