A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3358096



Internal ID19789074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23365535..23365627hg38UCSC Ensembl
chr16:23376856..23376948hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14577769, nssv14573626
SamplesHG02106, NA19434
Known GenesSCNN1B
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)nsv3358096
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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