A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3323745



Internal ID19754724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:266301..290400hg38UCSC Ensembl
chr1:236052..260151hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3824100
hg1924100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14480401, nssv14475744, nssv14474755, nssv14489837, nssv14473593, nssv14474057, nssv14481036, nssv14476960, nssv14488253, nssv14485551, nssv14490906
SamplesHG02106, HG04217, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00514
Known Genes
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)nsv3323745
Frequency
Sample Size14
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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