A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3382525



Internal ID19466818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:4269213..4269272hg38UCSC Ensembl
chr4:4270940..4270999hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14790526
SamplesHG01352
Known GenesLYAR
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)nsv3382525
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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