A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3397974



Internal ID19828951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6321539..6321539hg38UCSC Ensembl
chr5:6321652..6321652hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381057
hg191057
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14692597, nssv14701755
SamplesHG00268, HG02818
Known GenesFLJ33360
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)nsv3397974
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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