A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14783308



Internal ID19719741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127677379..127677505hg38UCSC Ensembl
chr4:128598534..128598660hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3391928
Supporting Variants
SamplesNA19240
Known GenesINTU
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)nssv14783308
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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