A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3336011



Internal ID19766989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132213035..132213194hg38UCSC Ensembl
chr12:132697580..132697739hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14539589, nssv14537297, nssv14542226, nssv14534183, nssv14549579, nssv14543184, nssv14546947, nssv14532806
SamplesCHM13, HG04217, HG00268, HG02818, HX1, HG01352, NA19240, HG00514
Known GenesGALNT9
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)nsv3336011
Frequency
Sample Size14
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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