A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14564303



Internal ID19419776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:32395101..32455000hg38UCSC Ensembl
chr15:32687302..32747201hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg3859900
hg1959900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3353021
Supporting Variants
SamplesCHM1
Known GenesGOLGA8K, GOLGA8O, ULK4P1, ULK4P2, ULK4P3
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)nssv14564303
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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