A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3348919



Internal ID19779898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66379884..66380018hg38UCSC Ensembl
chr16:66413787..66413921hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14584434, nssv14573698, nssv14582963, nssv14578717, nssv14586776, nssv14584498, nssv14589369, nssv14585067, nssv14576458
SamplesCHM13, HG02106, CHM1, HG00268, HG02818, HX1, HG02059, HG01352, NA19240
Known GenesCDH5
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)nsv3348919
Frequency
Sample Size14
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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