A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3333623



Internal ID19764601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70295270..70295322hg38UCSC Ensembl
chr11:70141376..70141428hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14512378, nssv14512563, nssv14532002
SamplesHG04217, NA12878, HG02818
Known GenesPPFIA1
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)nsv3333623
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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