A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3330382



Internal ID19761360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106710174..106710267hg38UCSC Ensembl
chr11:106580900..106580993hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14514025, nssv14530251, nssv14521145
SamplesHG02106, CHM1, HG02818
Known GenesGUCY1A2
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)nsv3330382
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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