A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3320410



Internal ID19751388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149575101..149601000hg38UCSC Ensembl
chr1:148797376..149570176hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3825900
hg19772801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14486220, nssv14475096, nssv14487310, nssv14486647, nssv14484118, nssv14490152, nssv14482237, nssv14491669, nssv14485420, nssv14484980, nssv14491214
SamplesHG02106, HG04217, CHM1, NA12878, HG02818, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesFCGR1C, LOC101929780, LOC388692, LOC645166, NBPF23, PPIAL4A, PPIAL4B, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F
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)nsv3320410
Frequency
Sample Size14
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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