A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3356295



Internal ID19787273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24479256..24479343hg38UCSC Ensembl
chr16:24490577..24490664hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14586705, nssv14574821, nssv14580668, nssv14584539, nssv14588489, nssv14577731
SamplesHG04217, CHM1, NA12878, HG01352, NA19434, NA19240
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)nsv3356295
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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