A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3416155



Internal ID19847130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:67601701..67614600hg38UCSC Ensembl
chr9:44748238..46273129hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3812900
hg191524892
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14787135, nssv14778867, nssv14779230, nssv14790468
SamplesNA12878, HG02059, HG01352, NA19434
Known GenesFAM27A, FAM27C, FAM27E2
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)nsv3416155
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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