A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3342649



Internal ID19773627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:79830901..79830901hg38UCSC Ensembl
chr16:79864798..79864798hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg384239
hg194239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14574124, nssv14586303
SamplesCHM13, NA19240
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)nsv3342649
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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