A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3418058



Internal ID19849033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1876937..1876937hg38UCSC Ensembl
chr7:1916573..1916573hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382502
hg192502
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14752006, nssv14744341, nssv14742498, nssv14751125, nssv14748761, nssv14736681
SamplesCHM13, HG02106, HG00268, HG01352, NA19240, HG00514
Known GenesMAD1L1
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)nsv3418058
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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