A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3320181



Internal ID19404471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149317901..149353100hg38UCSC Ensembl
chr1:145072055..145111377hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3835200
hg1939323
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14484365, nssv14485953, nssv14485112, nssv14477501, nssv14473885, nssv14490734, nssv14488806, nssv14478634, nssv14479446, nssv14487928, nssv14481911
SamplesHG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HG02059, HG01352, NA19434, NA19240, HG00733
Known GenesLOC100288142, NBPF9, PDE4DIP, SEC22B
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)nsv3320181
Frequency
Sample Size14
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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