A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3338849



Internal ID19769827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94950282..94950591hg38UCSC Ensembl
chr12:95344058..95344367hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14516422, nssv14521087, nssv14525202, nssv14526822
SamplesCHM1, NA12878, HG01352, NA19434
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 Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3338849
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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