A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3330699



Internal ID19761677
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 StatusM
Merged Variants
Supporting Variantsnssv14509367, nssv14497025
SamplesHX1, NA19434
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)nsv3330699
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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