A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3412913



Internal ID19843889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:134665249..134665671hg38UCSC Ensembl
chr7:134350001..134350423hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14806969, nssv14792663, nssv14804477, nssv14793254, nssv14792863, nssv14811694, nssv14803020, nssv14793736, nssv14798669, nssv14801938
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, HG02818, HX1, HG02059, NA19240, HG00514
Known GenesBPGM
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
CommentsAbsence of a L1 insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3412913
Frequency
Sample Size14
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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