A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3335244



Internal ID19766222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123476275..123476275hg38UCSC Ensembl
chr12:123960822..123960822hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14546403, nssv14541057
SamplesHG02106, HG00268
Known GenesRILPL1
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)nsv3335244
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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