A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3336323



Internal ID19767301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16267190..16268348hg38UCSC Ensembl
chr12:16420124..16421282hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381159
hg191159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14526864, nssv14521157, nssv14530397, nssv14515978, nssv14513317, nssv14512690, nssv14525422
SamplesHG02106, HG04217, CHM1, NA12878, NA19434, NA19240, HG00733
Known GenesSLC15A5
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)nsv3336323
Frequency
Sample Size14
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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