A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3343363



Internal ID19774341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47020801..47031500hg38UCSC Ensembl
chr18:44549424..44557871hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3810700
hg198448
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14603665, nssv14610314, nssv14609219, nssv14605023, nssv14606758, nssv14597859, nssv14604406
SamplesHG04217, CHM1, HG00268, HG02818, HG01352, NA19434, NA19240
Known GenesKATNAL2, TCEB3C, TCEB3CL, TCEB3CL2
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)nsv3343363
Frequency
Sample Size14
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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