A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3400563



Internal ID19831540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:95079875..95079967hg38UCSC Ensembl
chr8:96092103..96092195hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14775075, nssv14784371, nssv14779848, nssv14784051
SamplesHG04217, HG02818, NA19434, HG00733
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)nsv3400563
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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