A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3346821



Internal ID19777799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:49489789..49489845hg38UCSC Ensembl
chr15:49781986..49782042hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14567818, nssv14571565, nssv14553484, nssv14568538, nssv14564648, nssv14560799
SamplesCHM1, HG00268, NA12878, HG02818, HG00733, HG00514
Known GenesFAM227B
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)nsv3346821
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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