A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14700227



Internal ID19361941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45257949..45257949hg38UCSC Ensembl
chr5:45258051..45258051hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3389586
Supporting Variants
SamplesNA19240
Known GenesHCN1
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)nssv14700227
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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