A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14509367



Internal ID19726882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:8296959..8296959hg38UCSC Ensembl
chr10:8338922..8338922hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3330699
Supporting Variants
SamplesNA19434
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)nssv14509367
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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