A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3410024



Internal ID19841000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2377696..2377696hg38UCSC Ensembl
chr7:2417331..2417331hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14750830, nssv14750306, nssv14748078, nssv14744136
SamplesCHM1, HG00268, HG02818, HG02059
Known GenesEIF3B
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)nsv3410024
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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