A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3360906



Internal ID19791884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5996286..5996286hg38UCSC Ensembl
chr19:5996297..5996297hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14597534, nssv14608562, nssv14609657
SamplesHG02106, HG04217, HG00268
Known GenesLOC100128568, RFX2
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)nsv3360906
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