A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3392544



Internal ID19823521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157925953..157926114hg38UCSC Ensembl
chr6:158346985..158347146hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14814780
SamplesNA19434
Known GenesSNX9
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
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3392544
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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