A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3365885



Internal ID19796863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113948974..113948974hg38UCSC Ensembl
chr2:114706551..114706551hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg383952
hg193952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14621319, nssv14616387, nssv14631929, nssv14614713, nssv14623243, nssv14627077, nssv14624811, nssv14612302
SamplesHG02106, CHM1, NA12878, HG02818, HX1, NA19434, NA19240, HG00514
Known GenesACTR3
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)nsv3365885
Frequency
Sample Size14
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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