A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3415076



Internal ID19846052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137946893..137946952hg38UCSC Ensembl
chr7:137631639..137631698hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14763584, nssv14769364, nssv14753264, nssv14762036, nssv14752979, nssv14761641
SamplesHG02106, HG02818, HX1, HG02059, HG00733, HG00514
Known GenesCREB3L2
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)nsv3415076
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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