A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3397588



Internal ID19828565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50615368..50615368hg38UCSC Ensembl
chr3:50652799..50652799hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14670933, nssv14661329, nssv14652747
SamplesCHM13, HG02106, HG04217
Known GenesMAPKAPK3
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)nsv3397588
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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