A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3349111



Internal ID19433403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42106636..42106636hg38UCSC Ensembl
chr17:40258654..40258654hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14589462, nssv14579805, nssv14589809
SamplesHG04217, HG02818, NA19434
Known GenesDHX58
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)nsv3349111
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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