A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3378844



Internal ID19809822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143921916..143922013hg38UCSC Ensembl
chr2:144679483..144679580hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14643904, nssv14644554, nssv14646414, nssv14646011, nssv14635428, nssv14636107
SamplesHG04217, NA12878, HX1, 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
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3378844
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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