A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14740857



Internal ID19680117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45740921..45741077hg38UCSC Ensembl
chr12:46134704..46134860hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3337563
Supporting Variants
SamplesNA12878
Known GenesARID2
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)nssv14740857
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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