A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3349338



Internal ID19433630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78111932..78111932hg38UCSC Ensembl
chr17:76108013..76108013hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14591126, nssv14591160, nssv14582547, nssv14584960
SamplesCHM13, HG02106, CHM1, HG01352
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)nsv3349338
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer