A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14726747



Internal ID19212236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110454797..110454797hg38UCSC Ensembl
chr6:110776000..110776000hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3381033
Supporting Variants
SamplesHG02059
Known GenesSLC22A16
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)nssv14726747
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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