A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3413940



Internal ID19844917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:41171901..41183300hg38UCSC Ensembl
chr9:70862889..70874296hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3811400
hg1911408
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14778856, nssv14786045
SamplesHG02818, HG01352
Known GenesCBWD3
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)nsv3413940
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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