A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14514142



Internal ID19700281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46237378..46238290hg38UCSC Ensembl
chr12:46631161..46632073hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38913
hg19913
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3337059
Supporting Variants
SamplesNA19240
Known GenesSLC38A1
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)nssv14514142
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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