A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3343979



Internal ID19774957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23939283..23939283hg38UCSC Ensembl
chr14:24408492..24408492hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14564467, nssv14565721
SamplesHG02106, NA19240
Known GenesDHRS4-AS1
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)nsv3343979
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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