A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3379195



Internal ID19810173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166997814..166997814hg38UCSC Ensembl
chr6:167411302..167411302hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381454
hg191454
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14749152, nssv14747814, nssv14748323, nssv14732106, nssv14749258, nssv14737505, nssv14748636, nssv14740693, nssv14736224
SamplesCHM13, HG02106, HG04217, HG00268, NA12878, HG02059, HG01352, NA19434, HG00733
Known GenesMIR3939
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)nsv3379195
Frequency
Sample Size14
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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