A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3401424



Internal ID19832401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:14212302..14212302hg38UCSC Ensembl
chr7:14251927..14251927hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14738292, nssv14745324
SamplesHG00268, NA19434
Known GenesDGKB
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
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3401424
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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