A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3376146



Internal ID19807124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13000201..13152800hg38UCSC Ensembl
chr21:14372522..14525121hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38152600
hg19152600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14638448, nssv14636690, nssv14637133, nssv14642090, nssv14636776, nssv14649983
SamplesHG02106, HG04217, HG00268, NA12878, HG02059, HG01352
Known GenesANKRD30BP2
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)nsv3376146
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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