A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3396865



Internal ID19827842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100991684..100991684hg38UCSC Ensembl
chr7:100634965..100634965hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385307
hg195307
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14741192, nssv14750981, nssv14751274, nssv14735549, nssv14734962
SamplesNA12878, HG02059, NA19434, NA19240, HG00733
Known GenesMUC12
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)nsv3396865
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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