A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3413268



Internal ID19844244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62685901..62699200hg38UCSC Ensembl
chr9:46997202..47010501hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3813300
hg1913300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14772617, nssv14783916, nssv14776197, nssv14776538, nssv14778465, nssv14783104, nssv14789949, nssv14791416
SamplesCHM13, HG02106, HG04217, HG00268, NA12878, HG02818, HG02059, HG01352
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)nsv3413268
Frequency
Sample Size14
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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