A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3333205



Internal ID19764183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3895735..3895823hg38UCSC Ensembl
chr11:3916965..3917053hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14514447, nssv14520618, nssv14525811, nssv14514227, nssv14517439, nssv14529843
SamplesHG02106, HG02818, HG02059, HG01352, NA19240, HG00514
Known GenesSTIM1
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)nsv3333205
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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