A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3417095



Internal ID19848070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:67489460..67500820hg38UCSC Ensembl
chr9:38863130..38874493hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3811361
hg1911364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14785284, nssv14776095
SamplesCHM13, HG02059
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)nsv3417095
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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