A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3328510



Internal ID19759488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:3085773..3085773hg38UCSC Ensembl
chr10:3127965..3127965hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14502389, nssv14502215, nssv14494485, nssv14505577, nssv14495718
SamplesHG04217, HX1, HG02059, HG01352, HG00514
Known GenesPFKP
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)nsv3328510
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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