A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3382508



Internal ID19813487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:745383..745495hg38UCSC Ensembl
chr4:739171..739283hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14673304, nssv14681737, nssv14686195
SamplesHG02106, HG02818, NA19240
Known GenesPCGF3
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)nsv3382508
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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