A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14570983



Internal ID19702391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:19234901..19312000hg38UCSC Ensembl
chr14:19823017..19899670hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3877100
hg1976654
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3347644
Supporting Variants
SamplesNA19240
Known GenesBMS1P17, BMS1P18
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)nssv14570983
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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