A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3414922



Internal ID19845898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62800701..62924700hg38UCSC Ensembl
chr9:66456525..66580524hg19UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg38124000
hg19124000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14784335, nssv14782723, nssv14784507, nssv14775149, nssv14786694, nssv14791334, nssv14786678, nssv14775840, nssv14781393, nssv14774670, nssv14773442, nssv14791281, nssv14779206, nssv14785428
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesPTGER4P2-CDK2AP2P2
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)nsv3414922
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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