A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3335993



Internal ID19766971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131918761..131918761hg38UCSC Ensembl
chr12:132403306..132403306hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38494
hg19494
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14549385, nssv14551523, nssv14544233, nssv14532540, nssv14543620, nssv14549093, nssv14537374, nssv14551182, nssv14543784
SamplesCHM13, HG02106, HG04217, HG00268, HX1, HG02059, HG01352, HG00733, HG00514
Known GenesULK1
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)nsv3335993
Frequency
Sample Size14
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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