A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3329965



Internal ID19760943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:67043927..67043927hg38UCSC Ensembl
chr10:68803685..68803685hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg381541
hg191541
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14505639, nssv14492991, nssv14494560
SamplesCHM1, HG00268, HG00514
Known GenesCTNNA3, LRRTM3
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)nsv3329965
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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