A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3327751



Internal ID19758729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133203094..133203201hg38UCSC Ensembl
chr10:135016598..135016705hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14504580, nssv14511610, nssv14497526, nssv14503613, nssv14502877, nssv14511042
SamplesHG02106, HG04217, CHM1, HG00268, NA12878, HX1
Known GenesKNDC1
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)nsv3327751
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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