A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3415019



Internal ID19845995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:132378605..132378605hg38UCSC Ensembl
chr9:135253992..135253992hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14773704, nssv14777656, nssv14779586
SamplesHG02818, NA19240, HG00514
Known GenesTTF1
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)nsv3415019
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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