A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3407292



Internal ID19838268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130436654..130436716hg38UCSC Ensembl
chr8:131448900..131448962hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14813327
SamplesHG02059
Known GenesASAP1
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
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3407292
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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