A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14583287



Internal ID19498417
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 StatusS
Merged Variantsnsv3356167
Supporting Variants
SamplesHG00514
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)nssv14583287
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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