A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14630052



Internal ID19392164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46753351..46753351hg38UCSC Ensembl
chr19:47256608..47256608hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3370740
Supporting Variants
SamplesNA19434
Known GenesFKRP
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)nssv14630052
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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