A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3367853



Internal ID19798831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241487616..241487616hg38UCSC Ensembl
chr2:242427031..242427031hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14649630, nssv14650679
SamplesCHM1, NA12878
Known GenesFARP2
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)nsv3367853
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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