A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14644792



Internal ID19728942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207173031..207177180hg38UCSC Ensembl
chr2:208037755..208041904hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg384150
hg194150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3370236
Supporting Variants
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)nssv14644792
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