A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3367264



Internal ID19798242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45208294..45208294hg38UCSC Ensembl
chr22:45604175..45604175hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14657870, nssv14656682, nssv14668875, nssv14663591
SamplesCHM1, HG02818, NA19434, HG00733
Known GenesKIAA0930
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)nsv3367264
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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