A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3402445



Internal ID19833422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:146382748..146382748hg38UCSC Ensembl
chrX:145464266..145464266hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14799899, nssv14806660, nssv14811707, nssv14806943, nssv14808928, nssv14805669, nssv14809343, nssv14804571, nssv14801349, nssv14795642, nssv14798871, nssv14794646, nssv14804925, nssv14794269
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, 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)nsv3402445
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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