A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3402421



Internal ID19833398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:153066026..153084040hg38UCSC Ensembl
chrX:152234392..152349893hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3818015
hg19115502
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14806058, nssv14799538, nssv14804935, nssv14795953, nssv14808775, nssv14802853
SamplesCHM13, HG02106, HG00268, HG02818, NA19240, HG00514
Known GenesPNMA6A, PNMA6C
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)nsv3402421
Frequency
Sample Size14
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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