A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3367141



Internal ID19798119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42447084..42447084hg38UCSC Ensembl
chr2:42674224..42674224hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14616466
SamplesNA19434
Known GenesKCNG3
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)nsv3367141
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