A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3416928



Internal ID19847904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75477501..75509200hg38UCSC Ensembl
chr7:75106778..75138522hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3831700
hg1931745
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14733798, nssv14743759
SamplesHG02106, HG00268
Known GenesPMS2P3, POM121C, SPDYE5
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)nsv3416928
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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