A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3410981



Internal ID19841957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:61092901..61109300hg38UCSC Ensembl
chr9:43848786..43865148hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3816400
hg1916363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14786053
SamplesHG00733
Known GenesCNTNAP3B
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)nsv3410981
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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