A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3331469



Internal ID19762447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36144853..36145107hg38UCSC Ensembl
chr11:36166403..36166657hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14531960, nssv14520899, nssv14529701
SamplesHX1, HG02059, NA19434
Known GenesLDLRAD3
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)nsv3331469
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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