A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14528656



Internal ID19068577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48842711..48842711hg38UCSC Ensembl
chr12:49236494..49236494hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3338137
Supporting Variants
SamplesCHM1
Known GenesDDX23
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)nssv14528656
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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