A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3411677



Internal ID19842653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129421551..129421609hg38UCSC Ensembl
chr9:132183830..132183888hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14787598, nssv14782341, nssv14786766, nssv14778387, nssv14788552, nssv14775089, nssv14788109
SamplesCHM13, HG00268, NA12878, HX1, NA19240, HG00733, HG00514
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)nsv3411677
Frequency
Sample Size14
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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