A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3399147



Internal ID19483438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101509174..101509174hg38UCSC Ensembl
chr8:102521402..102521402hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14772606, nssv14777885, nssv14786086, nssv14788046, nssv14789421, nssv14783085
SamplesCHM13, HG02106, HG00268, NA12878, NA19434, NA19240
Known GenesGRHL2
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)nsv3399147
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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