A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3346000



Internal ID19776978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57218711..57219033hg38UCSC Ensembl
chr16:57252623..57252945hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14544217, nssv14532100, nssv14551919
SamplesCHM13, HG02818, HG00514
Known GenesRSPRY1
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)nsv3346000
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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