A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14506125



Internal ID19745491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51966894..51966894hg38UCSC Ensembl
chr10:53726654..53726654hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3328741
Supporting Variants
SamplesNA19434
Known GenesPRKG1
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)nssv14506125
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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