A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3335230



Internal ID19766208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121747754..121747754hg38UCSC Ensembl
chr12:122185660..122185660hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14549337, nssv14533721, nssv14542382
SamplesHG04217, HG02059, NA19434
Known GenesTMEM120B
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)nsv3335230
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer