A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14576546



Internal ID19270017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68092610..68092610hg38UCSC Ensembl
chr16:68126513..68126513hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg383147
hg193147
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3344338
Supporting Variants
SamplesHG02818
Known GenesNFATC3
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)nssv14576546
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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