A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14720254



Internal ID19311763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115474390..115474735hg38UCSC Ensembl
chr20:5943011..5943320hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38346
hg19310
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3405006
Supporting Variants
SamplesHX1
Known GenesMCM8
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
CommentsAbsence of a Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nssv14720254
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer