A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3338376



Internal ID19769354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79395699..79395699hg38UCSC Ensembl
chr12:79789479..79789479hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14550038
SamplesNA19240
Known GenesSYT1
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)nsv3338376
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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