A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3408438



Internal ID19839414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147992470..147992470hg38UCSC Ensembl
chrX:147073990..147073990hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14797762, nssv14804303, nssv14811577, nssv14810564, nssv14804973, nssv14798407, nssv14793011, nssv14799149, nssv14807613, nssv14807098, nssv14811128, nssv14799911
SamplesHG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733
Known GenesFMR1NB
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)nsv3408438
Frequency
Sample Size14
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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