A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3402807



Internal ID19833783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:42567401..42586600hg38UCSC Ensembl
chr9:44384519..44403718hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3819200
hg1919200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14780955, nssv14783109, nssv14788670, nssv14784111, nssv14778743, nssv14780048
SamplesHG02106, HG04217, CHM1, NA12878, NA19434, HG00733
Known GenesLOC643648
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)nsv3402807
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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