A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14777879



Internal ID19645793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:37808749..37808749hg38UCSC Ensembl
chr9:37808746..37808746hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3415622
Supporting Variants
SamplesHG04217
Known GenesDCAF10
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)nssv14777879
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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