A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3337316



Internal ID19768294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:197175..197175hg38UCSC Ensembl
chr12:306341..306341hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38836
hg19836
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14512767, nssv14515394, nssv14525323, nssv14521691, nssv14520360, nssv14526809, nssv14528196, nssv14521161, nssv14519483, nssv14514329, nssv14529631, nssv14531312, nssv14529716
SamplesCHM13, HG02106, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesSLC6A12
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)nsv3337316
Frequency
Sample Size14
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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