A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3414135



Internal ID19845112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113900752..113900752hg38UCSC Ensembl
chr9:116663032..116663032hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14787069, nssv14779531
SamplesCHM1, HG01352
Known GenesZNF618
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)nsv3414135
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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