A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3337461



Internal ID19768439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41453907..41453907hg38UCSC Ensembl
chr12:41847709..41847709hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14515906, nssv14523994, nssv14515823, nssv14518991, nssv14522673, nssv14514524, nssv14520593
SamplesCHM13, HG02106, HG04217, HG02818, HG02059, HG01352, NA19434
Known GenesPDZRN4
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)nsv3337461
Frequency
Sample Size14
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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