A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3372794



Internal ID19803772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41532013..41532013hg38UCSC Ensembl
chr19:42038373..42038373hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg388309
hg198309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14628645, nssv14620217
SamplesHG02818, 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)nsv3372794
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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