A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3385953



Internal ID19816931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174117923..174118002hg38UCSC Ensembl
chr5:173544926..173545005hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14712790, nssv14727839, nssv14712309, nssv14713200, nssv14731990
SamplesHG04217, HG02818, HG02059, NA19434, 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)nsv3385953
Frequency
Sample Size14
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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