A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3340722



Internal ID19771700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87479301..87493800hg38UCSC Ensembl
chr16:87512907..87527406hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3814500
hg1914500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14583853, nssv14580787, nssv14590367
SamplesHG04217, CHM1, NA19240
Known GenesZCCHC14
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)nsv3340722
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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