A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14797790



Internal ID19224339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132680585..132680654hg38UCSC Ensembl
chr5:132016277..132016346hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3388547
Supporting Variants
SamplesHG02059
Known GenesIL4
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
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nssv14797790
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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