A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3376456



Internal ID19807434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241036054..241036054hg38UCSC Ensembl
chr2:241975471..241975471hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14638313, nssv14639007, nssv14646548
SamplesHG02106, HG00268, HG02059
Known GenesSNED1
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)nsv3376456
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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