A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3335007



Internal ID19765985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114874403..114874534hg38UCSC Ensembl
chr12:115312208..115312339hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14550194, nssv14543055, nssv14534048, nssv14536562
SamplesHG02106, HG00268, HG02818, NA19434
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)nsv3335007
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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