A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3321433



Internal ID19752412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18925788..18925788hg38UCSC Ensembl
chr1:19252282..19252282hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14487859, nssv14484102, nssv14490746, nssv14479913, nssv14480992, nssv14473306, nssv14475348, nssv14483628, nssv14476274, nssv14489232
SamplesHG02106, HG04217, HG00268, HG02818, HX1, HG02059, HG01352, NA19434, HG00733, HG00514
Known GenesIFFO2
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)nsv3321433
Frequency
Sample Size14
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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