A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3334635



Internal ID19765613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121747896..121747896hg38UCSC Ensembl
chr12:122185802..122185802hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38867
hg19867
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14532721, nssv14549888, nssv14549201, nssv14541723
SamplesCHM13, HG02106, HG00268, HG02059
Known GenesTMEM120B
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)nsv3334635
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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