A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3406557



Internal ID19490848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:41946749..41946749hg38UCSC Ensembl
chr8:41804267..41804267hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14762140
SamplesNA19240
Known GenesKAT6A
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)nsv3406557
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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