A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3356712



Internal ID19787690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34529692..34562447hg38UCSC Ensembl
chr14:34998898..35031653hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg3832756
hg1932756
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14558997
SamplesHG02059
Known GenesEAPP, SNX6
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)nsv3356712
Frequency
Sample Size14
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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