A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3343284



Internal ID19774262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1049562..1049562hg38UCSC Ensembl
chr19:1049561..1049561hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14601119, nssv14611728, nssv14603465, nssv14607167, nssv14610471
SamplesCHM13, HG00268, NA12878, HG02059, NA19240
Known GenesABCA7
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)nsv3343284
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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