A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3360559



Internal ID19791537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147892495..147892495hg38UCSC Ensembl
chr2:148650064..148650064hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14645131, nssv14644767, nssv14648839, nssv14634092
SamplesCHM1, NA12878, NA19240, HG00733
Known GenesACVR2A
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)nsv3360559
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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