A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3391966



Internal ID19822943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116577508..116577508hg38UCSC Ensembl
chr6:116898671..116898671hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14713239, nssv14719484, nssv14727960, nssv14717373
SamplesHG02106, HG04217, NA12878, HG01352
Known GenesRWDD1
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)nsv3391966
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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