A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3319861



Internal ID19750839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143481001..143491000hg38UCSC Ensembl
chr1:148861944..148871951hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3810000
hg1910008
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14491862, nssv14472589
SamplesNA12878, HG02818
Known GenesLOC101929780
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)nsv3319861
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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