A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3327446



Internal ID19758424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:23111787..23111840hg38UCSC Ensembl
chr10:23400716..23400769hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14502601, nssv14495784, nssv14503440, nssv14496265, nssv14510101, nssv14492104, nssv14497865, nssv14500815, nssv14504366, nssv14511941, nssv14510863
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesMSRB2
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)nsv3327446
Frequency
Sample Size14
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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