A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3356321



Internal ID19787299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2997380..2997460hg38UCSC Ensembl
chr18:2997378..2997458hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14800003, nssv14802231, nssv14805481, nssv14794454, nssv14810958
SamplesHG04217, CHM1, HG02059, NA19434, HG00514
Known GenesLPIN2
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)nsv3356321
Frequency
Sample Size14
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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