A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3405070



Internal ID19836046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:51203207..51203476hg38UCSC Ensembl
chr7:51270904..51271173hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14699230
SamplesCHM1
Known GenesCOBL
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)nsv3405070
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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