A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3342267



Internal ID19773245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:68859564..68859867hg38UCSC Ensembl
chr15:69151903..69152206hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14562736, nssv14570481, nssv14566061
SamplesHG02818, NA19434, NA19240
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
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3342267
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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