A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3403079



Internal ID19834056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:111721072..111721327hg38UCSC Ensembl
chrX:110964300..110964555hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14798112
SamplesHG02059
Known GenesALG13
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)nsv3403079
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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