A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3381568



Internal ID19465861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52940231..52940231hg38UCSC Ensembl
chr6:52805029..52805029hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14723496, nssv14713556, nssv14714773, nssv14721184
SamplesHG02106, HX1, HG02059, HG00514
Known Genes
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)nsv3381568
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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