A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3337677



Internal ID19768655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6798208..6798463hg38UCSC Ensembl
chr12:6907374..6907629hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14523105, nssv14517927, nssv14519312
SamplesCHM13, CHM1, HG00733
Known GenesCD4
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)nsv3337677
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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