A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3330718



Internal ID19761696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:86504416..86504416hg38UCSC Ensembl
chr10:88264173..88264173hg19UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg383513
hg193513
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14498717, nssv14511213, nssv14509052, nssv14509681, nssv14498814, nssv14496797, nssv14506187, nssv14498996, nssv14510309, nssv14510808, nssv14498435, nssv14507038, nssv14497110, nssv14496120
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesWAPAL
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)nsv3330718
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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