A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14598499



Internal ID19189183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4839838..4839838hg38UCSC Ensembl
chr19:4839850..4839850hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3374790
Supporting Variants
SamplesHG01352
Known GenesPLIN3
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)nssv14598499
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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