A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3369274



Internal ID19800253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191398204..191398378hg38UCSC Ensembl
chr2:192262930..192263104hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14812425, nssv14812813, nssv14812095, nssv14812251, nssv14813030
SamplesCHM13, CHM1, HG00268, HG01352, HG00733
Known GenesMYO1B
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 SVA insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3369274
Frequency
Sample Size14
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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