A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3399648



Internal ID19830625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:67372301..67453000hg38UCSC Ensembl
chr9:38910946..38991626hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3880700
hg1980681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14781457, nssv14775910, nssv14785150
SamplesNA12878, HG02818, NA19240
Known Genes
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)nsv3399648
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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