A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3360813



Internal ID19791791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:195568385..195568385hg38UCSC Ensembl
chr2:196433109..196433109hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38571
hg19571
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14636918, nssv14644745, nssv14633993, nssv14639730
SamplesHG04217, HG00268, HX1, NA19434
Known Genes
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)nsv3360813
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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