A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3355458



Internal ID19786436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58209259..58209259hg38UCSC Ensembl
chr18:55876491..55876491hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14608536, nssv14599793, nssv14599813, nssv14602561, nssv14609310, nssv14595623, nssv14601453, nssv14607542, nssv14598937, nssv14609776, nssv14596696, nssv14604612, nssv14596273
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesNEDD4L
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)nsv3355458
Frequency
Sample Size14
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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