A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3350493



Internal ID19781471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56739505..56739505hg38UCSC Ensembl
chr16:56773417..56773417hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14585204, nssv14579179, nssv14587990, nssv14575674, nssv14581466, nssv14582391, nssv14578761, nssv14573920, nssv14581995, nssv14581008, nssv14583767
SamplesCHM13, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00514
Known GenesNUP93
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)nsv3350493
Frequency
Sample Size14
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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