A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3401948



Internal ID19832924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:66066101..66079900hg38UCSC Ensembl
chr9:42441424..42455223hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3813800
hg1913800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14787086, nssv14772581
SamplesHG02106, HG02059
Known Genes
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)nsv3401948
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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