A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3374507



Internal ID19805485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100477488..100477488hg38UCSC Ensembl
chr3:100196332..100196332hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14687663, nssv14678580, nssv14684624
SamplesHG02818, HG02059, NA19240
Known Genes
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)nsv3374507
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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