A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3379812



Internal ID19810790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2080411..2080411hg38UCSC Ensembl
chr4:2082138..2082138hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14675050, nssv14679183, nssv14682939, nssv14688283, nssv14672709, nssv14686658, nssv14679695, nssv14687794, nssv14676839
SamplesCHM13, HG02106, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, HG00733
Known GenesPOLN
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)nsv3379812
Frequency
Sample Size14
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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