A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14485593



Internal ID19281405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149435401..149449800hg38UCSC Ensembl
chr1:145253267..145267665hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3814400
hg1914399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3320184
Supporting Variants
SamplesHG02818
Known GenesLOC100288142, NBPF9, NOTCH2NL
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)nssv14485593
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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