A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14491708



Internal ID19677703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112449373..112449373hg38UCSC Ensembl
chr1:112991995..112991995hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3319535
Supporting Variants
SamplesNA12878
Known GenesCTTNBP2NL
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)nssv14491708
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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