A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3344441



Internal ID19428733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57403118..57403257hg38UCSC Ensembl
chr16:57437030..57437169hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14575466, nssv14581688, nssv14573396, nssv14582122, nssv14585768, nssv14589148
SamplesHG02106, NA12878, HG02059, 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)nsv3344441
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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