A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3333997



Internal ID19418289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60982124..60982124hg38UCSC Ensembl
chr11:60749596..60749596hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14526962, nssv14514558, nssv14515328, nssv14521384, nssv14517487, nssv14514564, nssv14515811, nssv14522588, nssv14530037, nssv14524477, nssv14530148
SamplesCHM13, HG02106, CHM1, HG00268, NA12878, HX1, HG02059, HG01352, NA19434, NA19240, HG00733
Known GenesCD6
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)nsv3333997
Frequency
Sample Size14
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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