A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3330719



Internal ID19761697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:86524799..86524799hg38UCSC Ensembl
chr10:88284556..88284556hg19UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14500215, nssv14507179, nssv14495362, nssv14505363, nssv14497948, nssv14510766
SamplesHG04217, HG00268, NA12878, HX1, HG02059, NA19434
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)nsv3330719
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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