A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3380254



Internal ID19811233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:63270858..63270964hg38UCSC Ensembl
chr3:63256534..63256640hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14668380, nssv14661178, nssv14658493, nssv14658425
SamplesCHM13, NA12878, HG01352, HG00733
Known Genes
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)nsv3380254
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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