A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3344729



Internal ID19775707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3469423..3469612hg38UCSC Ensembl
chr16:3519423..3519612hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14560900, nssv14570235, nssv14563248
SamplesHG00268, NA12878, HG00733
Known GenesNAA60
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)nsv3344729
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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