A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3336885



Internal ID19767863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:197207..197207hg38UCSC Ensembl
chr12:306373..306373hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14513140, nssv14512990, nssv14527162, nssv14529646, nssv14521135
SamplesNA12878, HX1, HG01352, NA19434, NA19240
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)nsv3336885
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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