A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3358846



Internal ID19443138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40808121..40808121hg38UCSC Ensembl
chr15:41100319..41100319hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14553109, nssv14552639, nssv14562101
SamplesCHM1, HX1, HG01352
Known GenesZFYVE19
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)nsv3358846
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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