A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3349727



Internal ID19780705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65060419..65060702hg38UCSC Ensembl
chr14:65527137..65527420hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14542496, nssv14536203, nssv14549030, nssv14538846, nssv14533235, nssv14551279
SamplesHG04217, HG02818, HX1, NA19240, HG00733, HG00514
Known GenesCHURC1-FNTB, FNTB, MAX
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
CommentsAbsence of a Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3349727
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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