A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3390193



Internal ID19821170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:109597455..109597455hg38UCSC Ensembl
chr4:110518611..110518611hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14702734, nssv14711377, nssv14701683, nssv14710691, nssv14708012
SamplesHG02106, HG04217, HG00268, NA12878, HG02059
Known GenesCCDC109B
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)nsv3390193
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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