A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3333924



Internal ID19764902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111326412..111326412hg38UCSC Ensembl
chr12:111764216..111764216hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14541526, nssv14543777, nssv14537013
SamplesHX1, HG02059, NA19434
Known GenesCUX2
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)nsv3333924
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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