A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3336095



Internal ID19767073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131918837..131918837hg38UCSC Ensembl
chr12:132403382..132403382hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14542492, nssv14547781, nssv14542541, nssv14546562, nssv14540544, nssv14547240, nssv14540862, nssv14536587
SamplesHG02106, 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)nsv3336095
Frequency
Sample Size14
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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