A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3330502



Internal ID19414794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126226430..126226430hg38UCSC Ensembl
chr11:126096325..126096325hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38795
hg19795
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14527062, nssv14517616, nssv14514498, nssv14513198, nssv14528301
SamplesHG02106, CHM1, NA12878, HG02818, HX1
Known GenesFAM118B
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)nsv3330502
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer