A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3364136



Internal ID19795114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8574532..8574585hg38UCSC Ensembl
chr19:8639416..8639469hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14596559, nssv14592550, nssv14606833, nssv14602842, nssv14596594, nssv14605695
SamplesCHM13, CHM1, NA12878, HX1, HG02059, HG00514
Known GenesMYO1F
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)nsv3364136
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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