A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3343744



Internal ID19774722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:68860164..68860293hg38UCSC Ensembl
chr15:69152503..69152632hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14814686, nssv14813612
SamplesHG02818, NA19434
Known GenesMIR548H4
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 SVA insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3343744
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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