A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3320690



Internal ID19751668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166739864..166739949hg38UCSC Ensembl
chr1:166709101..166709186hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14489014, nssv14487333, nssv14480153
SamplesNA12878, NA19240, HG00733
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
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3320690
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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