A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3366978



Internal ID19797956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210923926..210924433hg38UCSC Ensembl
chr2:211788650..211789157hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38508
hg19508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14638062
SamplesNA19434
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)nsv3366978
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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