A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3343638



Internal ID19774616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62581472..62581779hg38UCSC Ensembl
chr18:60248705..60249012hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14607602, nssv14600890, nssv14611307, nssv14602876
SamplesHG04217, CHM1, HG02818, HG02059
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)nsv3343638
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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