A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3386904



Internal ID19817882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:190181724..190181724hg38UCSC Ensembl
chrUn_gl000228:120616..120616hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg381225
hg191225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14700927, nssv14705582
SamplesHG02106, NA19240
Known Genes
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)nsv3386904
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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