A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3395101



Internal ID19826078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3146201..3146307hg38UCSC Ensembl
chr6:3146435..3146541hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14714499, nssv14731417, nssv14726478, nssv14731773, nssv14716382, nssv14714484
SamplesCHM13, HG04217, HG00268, NA12878, HG02818, HG00514
Known GenesBPHL
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)nsv3395101
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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