A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3320753



Internal ID19751731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:176396258..176396336hg38UCSC Ensembl
chr1:176365394..176365472hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14812547, nssv14813162, nssv14812951, nssv14812361
SamplesHG00268, HG02059, HG01352, HG00514
Known Genes
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)nsv3320753
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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