A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3321511



Internal ID19405802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203500070..203500070hg38UCSC Ensembl
chr1:203469198..203469198hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14475889, nssv14488772, nssv14489796, nssv14491222, nssv14480332, nssv14478731
SamplesHG02106, HG00268, NA12878, HX1, HG02059, NA19240
Known GenesOPTC
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)nsv3321511
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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