A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3376880



Internal ID19807858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:103944018..103944129hg38UCSC Ensembl
chr2:104560476..104560587hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14768894, nssv14758012
SamplesNA19434, NA19240
Known Genes
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)nsv3376880
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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