A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3392407



Internal ID19823384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94658834..94658947hg38UCSC Ensembl
chr5:93994539..93994652hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14776089, nssv14789680
SamplesHG02818, HG00733
Known GenesANKRD32
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)nsv3392407
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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