A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3365541



Internal ID19796519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28781422..28781509hg38UCSC Ensembl
chr22:29177410..29177497hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14613768
SamplesHG00733
Known GenesCCDC117
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)nsv3365541
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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