A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3405618



Internal ID19836595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1840373..1840470hg38UCSC Ensembl
chr8:1788539..1788636hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14770701, nssv14765402, nssv14759250
SamplesHG04217, HG02059, HG01352
Known GenesARHGEF10
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)nsv3405618
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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