A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14786022



Internal ID19701867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:115007564..115010717hg38UCSC Ensembl
chr4:115928720..115931873hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg383154
hg193154
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3382830
Supporting Variants
SamplesNA19240
Known GenesNDST4
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 L1 insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nssv14786022
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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