A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3320774



Internal ID19751752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179353212..179353212hg38UCSC Ensembl
chr1:179322347..179322347hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14482456, nssv14480803, nssv14487594, nssv14490255, nssv14487241
SamplesHG02818, HX1, HG01352, HG00733, HG00514
Known GenesSOAT1
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)nsv3320774
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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