A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3408611



Internal ID19839587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:112138239..112138239hg38UCSC Ensembl
chr9:114900519..114900519hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14785344, nssv14775110, nssv14780012, nssv14786758, nssv14784952, nssv14780128, nssv14780362, nssv14773536
SamplesCHM13, HG02106, CHM1, HG00268, HG02818, HX1, NA19434, NA19240
Known GenesMIR3134, SUSD1
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)nsv3408611
Frequency
Sample Size14
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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