A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3322256



Internal ID19753234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223896101..223945300hg38UCSC Ensembl
chr1:224083803..224133002hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3849200
hg1949200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14483296, nssv14479465, nssv14486997, nssv14488147, nssv14475838, nssv14485743, nssv14474938, nssv14472704, nssv14478974, nssv14482264, nssv14482174
SamplesHG02106, HG04217, CHM1, NA12878, HG02818, HG02059, HG01352, NA19434, NA19240, HG00733, 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)nsv3322256
Frequency
Sample Size14
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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