A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3364115



Internal ID19795093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:15742682..15742682hg38UCSC Ensembl
chr3:15784189..15784189hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38749
hg19749
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14662358, nssv14658285, nssv14662161, nssv14655321, nssv14670573, nssv14669135, nssv14662966, nssv14652814, nssv14662538, nssv14656968, nssv14668903, nssv14667565, nssv14666182, nssv14661104
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesANKRD28
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)nsv3364115
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer