A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3340033



Internal ID19771011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:92479979..92479979hg38UCSC Ensembl
chr15:93023209..93023209hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14562410, nssv14567376
SamplesHG02818, NA19434
Known GenesC15orf32
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)nsv3340033
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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