A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3347896



Internal ID19778874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:15016601..15040400hg38UCSC Ensembl
chr18:15016600..15040399hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3823800
hg1923800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14595149, nssv14606906, nssv14596568, nssv14592295, nssv14610768, nssv14606748, nssv14605770, nssv14608795, nssv14609071, nssv14611454, nssv14598002, nssv14597087, nssv14600660
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HG02059, HG01352, NA19434, NA19240, 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)nsv3347896
Frequency
Sample Size14
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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