A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3410510



Internal ID19841486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:97677150..97677221hg38UCSC Ensembl
chr8:98689378..98689449hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14718194, nssv14726823, nssv14718551, nssv14715829
SamplesHG02106, HG04217, HG02818, HX1
Known GenesMTDH
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 Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3410510
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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