A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3390978



Internal ID19475269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:137199529..137199529hg38UCSC Ensembl
chr6:137520666..137520666hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14731728, nssv14727405, nssv14721964, nssv14722087, nssv14714453, nssv14725963, nssv14728191, nssv14717315, nssv14720394, nssv14717052, nssv14713748, nssv14729247, nssv14719622
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, HG00733, HG00514
Known GenesIFNGR1
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)nsv3390978
Frequency
Sample Size14
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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