A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3416390



Internal ID19847365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75356501..75367100hg38UCSC Ensembl
chr7:74985742..74996368hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3810600
hg1910627
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14750772, nssv14748824, nssv14737840, nssv14740547
SamplesNA12878, HG02059, NA19434, HG00733
Known GenesPMS2P5, STAG3L1
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)nsv3416390
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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