A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3356167



Internal ID19787145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28698473..28709306hg38UCSC Ensembl
chr16:28709794..28720627hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3810834
hg1910834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14581205, nssv14589641, nssv14583287, nssv14580090, nssv14581285
SamplesNA12878, HG02818, HG02059, HG00733, HG00514
Known GenesEIF3C
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)nsv3356167
Frequency
Sample Size14
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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