A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3405243



Internal ID19836219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147992496..147992496hg38UCSC Ensembl
chrX:147074016..147074016hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14809042, nssv14794649, nssv14795454, nssv14802981, nssv14793784, nssv14793926, nssv14795488, nssv14799042, nssv14795034
SamplesHG02106, HG04217, HG00268, NA12878, HX1, HG02059, HG01352, NA19434, HG00514
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)nsv3405243
Frequency
Sample Size14
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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