A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3402152



Internal ID19833128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61122800..61123322hg38UCSC Ensembl
chr8:62035359..62035881hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14771057, nssv14771622
SamplesHG02106, NA12878
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)nsv3402152
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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