A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3354839



Internal ID19785817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26231601..26244500hg38UCSC Ensembl
chr18:23811565..23824464hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3812900
hg1912900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14600706, nssv14606163
SamplesHG02106, HG00268
Known GenesTAF4B
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)nsv3354839
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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