A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3319153



Internal ID19750128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120481601..120495600hg38UCSC Ensembl
chr1:144844183..144858182hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3814000
hg1914000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14485015, nssv14477621
SamplesHG00268, NA12878
Known GenesLOC100288142, NBPF9, PDE4DIP
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)nsv3319153
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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