A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3323838



Internal ID19408130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27878461..27878461hg38UCSC Ensembl
chr1:28204972..28204972hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381383
hg191383
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14481604, nssv14489659, nssv14478508, nssv14491766, nssv14475552, nssv14484678, nssv14476349, nssv14484106, nssv14488821, nssv14485427, nssv14482577, nssv14491690, nssv14483961, nssv14476014
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesTHEMIS2
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)nsv3323838
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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