A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3393129



Internal ID19824106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99589032..99589032hg38UCSC Ensembl
chr4:100510189..100510189hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14676266, nssv14683492, nssv14689905, nssv14672313, nssv14688000
SamplesNA12878, HX1, HG02059, HG00733, HG00514
Known GenesMTTP
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)nsv3393129
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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