A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3321378



Internal ID19752357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175122458..175122509hg38UCSC Ensembl
chr1:175091594..175091645hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14488346, nssv14481792, nssv14483289, nssv14474299, nssv14477678, nssv14479956, nssv14478190, nssv14474605
SamplesNA12878, HG02818, HX1, HG02059, HG01352, NA19434, HG00733, HG00514
Known GenesTNN
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)nsv3321378
Frequency
Sample Size14
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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