A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14807749



Internal ID19649293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147901977..147903992hg38UCSC Ensembl
chrX:146983495..146985510hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg382016
hg192016
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3401206
Supporting Variants
SamplesHG04217
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)nssv14807749
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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