A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3398798



Internal ID19829775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:106859931..106860118hg38UCSC Ensembl
chr8:105231728..105231869hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38188
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14731461, nssv14720034, nssv14717088, nssv14718100, nssv14725920, nssv14722549, nssv14717710, nssv14727449, nssv14718561
SamplesHG02106, HG04217, CHM1, NA12878, HG02818, HG01352, NA19240, HG00733, HG00514
Known GenesRIMS2
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)nsv3398798
Frequency
Sample Size14
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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