A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3366176



Internal ID19797155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151876666..151876666hg38UCSC Ensembl
chr2:152733180..152733180hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14646247, nssv14644977, nssv14645317
SamplesCHM13, HG00268, NA12878
Known GenesCACNB4
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)nsv3366176
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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