A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3357505



Internal ID19788483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:78632209..78632262hg38UCSC Ensembl
chr15:78924551..78924604hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14557500, nssv14571724, nssv14563354, nssv14556302, nssv14567313, nssv14556481, nssv14566581, nssv14561647, nssv14559874, nssv14553502, nssv14552923, nssv14569233
SamplesCHM13, HG02106, HG04217, CHM1, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, HG00733, HG00514
Known GenesCHRNB4
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)nsv3357505
Frequency
Sample Size14
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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