A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3402748



Internal ID19833724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58993881..58993881hg38UCSC Ensembl
chr8:59906440..59906440hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14770984, nssv14765769, nssv14769713, nssv14771996
SamplesHG02818, HX1, HG00733, HG00514
Known GenesTOX
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)nsv3402748
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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