A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3389491



Internal ID19473782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134449367..134449367hg38UCSC Ensembl
chr6:134770505..134770505hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14720199, nssv14717149, nssv14717619, nssv14724767
SamplesHG00268, HX1, HG02059, NA19240
Known GenesLINC01010
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)nsv3389491
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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