A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3349143



Internal ID19780121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57062201..57062201hg38UCSC Ensembl
chr18:54729432..54729432hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38957
hg19957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14598057, nssv14598201, nssv14593420, nssv14605181, nssv14596120, nssv14601528
SamplesCHM1, NA12878, HG02818, HG02059, NA19434, NA19240
Known GenesLINC-ROR
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)nsv3349143
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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