A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3392656



Internal ID19823633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:123266625..123266625hg38UCSC Ensembl
chr6:123587770..123587770hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14725583, nssv14726991, nssv14713788
SamplesHG02106, CHM1, HG01352
Known GenesTRDN
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)nsv3392656
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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