A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3341148



Internal ID19772126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56397704..56397967hg38UCSC Ensembl
chr16:56431616..56431879hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14589827, nssv14582809, nssv14581025, nssv14584792, nssv14583178, nssv14581699, nssv14591933, nssv14574159, nssv14585401, nssv14572487, nssv14587458
SamplesCHM13, HG04217, CHM1, NA12878, HG02818, HX1, HG02059, NA19434, NA19240, HG00733, HG00514
Known GenesAMFR
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)nsv3341148
Frequency
Sample Size14
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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