A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3338059



Internal ID19769038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95235290..95235417hg38UCSC Ensembl
chr12:95629066..95629193hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14532773, nssv14538986, nssv14535583
SamplesHG00268, NA19240, HG00514
Known GenesVEZT
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)nsv3338059
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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