A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14779526



Internal ID19255096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128353759..128353759hg38UCSC Ensembl
chr9:131116038..131116038hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3405379
Supporting Variants
SamplesHG02818
Known GenesSLC27A4
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)nssv14779526
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