A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3338137



Internal ID19422429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48842711..48842711hg38UCSC Ensembl
chr12:49236494..49236494hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14520281, nssv14528656, nssv14522046
SamplesCHM13, CHM1, NA12878
Known GenesDDX23
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)nsv3338137
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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