A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3375496



Internal ID19806474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226300710..226306454hg38UCSC Ensembl
chr2:227165426..227171170hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg385745
hg195745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14646546, nssv14650775, nssv14635862, nssv14643693, nssv14650460, nssv14639969, nssv14635561
SamplesHG02106, HG04217, CHM1, HG00268, HG02818, HG02059, 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)nsv3375496
Frequency
Sample Size14
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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