A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3325123



Internal ID19756101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55003043..55003043hg38UCSC Ensembl
chr1:55468716..55468716hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14473971, nssv14476333, nssv14477744, nssv14484689, nssv14492025, nssv14486656, nssv14486731, nssv14483180, nssv14483974, nssv14488321, nssv14473620, nssv14480011, nssv14490839, nssv14472690
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesBSND
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)nsv3325123
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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