A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3330147



Internal ID19761125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77376555..77376636hg38UCSC Ensembl
chr10:79136313..79136394hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14495199, nssv14496861, nssv14506480, nssv14508656, nssv14506498, nssv14509200
SamplesHX1, HG02059, HG01352, NA19434, NA19240, HG00733
Known GenesKCNMA1
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)nsv3330147
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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