A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3399741



Internal ID19830718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:65450598..65450598hg38UCSC Ensembl
chrX:64670478..64670478hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14799227, nssv14803089, nssv14811363, nssv14802666, nssv14792406, nssv14793816, nssv14793023, nssv14800151, nssv14807873
SamplesHG02106, HG04217, HG00268, NA12878, HG02818, HG02059, HG01352, NA19434, NA19240
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)nsv3399741
Frequency
Sample Size14
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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