A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3320094



Internal ID19751073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:144614001..144644900hg38UCSC Ensembl
chr1:148665158..148857113hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3830900
hg19191956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14489008, nssv14481318, nssv14491847, nssv14490388, nssv14488259, nssv14472943, nssv14482618, nssv14480366, nssv14484065, nssv14491397, nssv14480199, nssv14482441, nssv14474750
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesLOC101929780, NBPF16, 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)nsv3320094
Frequency
Sample Size14
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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