A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14630030



Internal ID19706180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3438040..3438040hg38UCSC Ensembl
chr2:3441811..3441811hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3360632
Supporting Variants
SamplesNA19240
Known GenesTRAPPC12
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)nssv14630030
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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