A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3386254



Internal ID19817232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:155452301..155466200hg38UCSC Ensembl
chr4:156373453..156387352hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg3813900
hg1913900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14710330, nssv14701368
SamplesHG02106, HG00268
Known Genes
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)nsv3386254
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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