A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3329466



Internal ID19760444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:6210535..6210634hg38UCSC Ensembl
chr10:6252498..6252597hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14503183, nssv14511347, nssv14511047
SamplesHG04217, HG02818, HG02059
Known GenesPFKFB3
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)nsv3329466
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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