A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3381235



Internal ID19812214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76974448..76974448hg38UCSC Ensembl
chr5:76270273..76270273hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14695190, nssv14706321
SamplesHG04217, HG00514
Known Genes
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)nsv3381235
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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