A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3417778



Internal ID19848753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129419763..129419763hg38UCSC Ensembl
chr9:132182042..132182042hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14774893, nssv14792030, nssv14791465, nssv14779749, nssv14784598
SamplesHG00268, NA12878, NA19240, HG00733, HG00514
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)nsv3417778
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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