A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3370063



Internal ID19801042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41939819..41939819hg38UCSC Ensembl
chr22:42335823..42335823hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14654213, nssv14658144, nssv14655915, nssv14667256, nssv14656803, nssv14667790, nssv14657549, nssv14665779
SamplesCHM13, HG02106, CHM1, HG00268, HG02059, NA19434, NA19240, HG00733
Known GenesCENPM
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)nsv3370063
Frequency
Sample Size14
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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