A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14718593



Internal ID19460621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73563828..73563828hg38UCSC Ensembl
chr6:74273551..74273551hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38614
hg19614
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3383032
Supporting Variants
SamplesHG00268
Known Genes
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)nssv14718593
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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