A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3407064



Internal ID19838040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:153114001..153128000hg38UCSC Ensembl
chrX:152379800..152393417hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3814000
hg1913618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14792783
SamplesNA19434
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)nsv3407064
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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