A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3325426



Internal ID19756404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59406191..59406191hg38UCSC Ensembl
chr1:59871863..59871863hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14475050, nssv14479779, nssv14489375, nssv14476689
SamplesNA12878, HG02818, HX1, HG01352
Known GenesFGGY
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)nsv3325426
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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