A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3349887



Internal ID19780865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81426375..81426375hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14594481, nssv14593726, nssv14610189, nssv14593567, nssv14596756
SamplesHG04217, HG02059, NA19434, 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)nsv3349887
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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