A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3391266



Internal ID19822243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40896614..40896614hg38UCSC Ensembl
chr3:40938105..40938105hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14657486, nssv14668357, nssv14670049, nssv14669481, nssv14666807, nssv14660712, nssv14655579, nssv14667157, nssv14652058, nssv14666301, nssv14659695, nssv14667771
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, HG02818, HX1, HG02059, HG01352, NA19434, 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)nsv3391266
Frequency
Sample Size14
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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