A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3361212



Internal ID19792190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241108943..241109024hg38UCSC Ensembl
chr2:242048358..242048439hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14639654, nssv14643672, nssv14648495, nssv14645819, nssv14642520
SamplesNA12878, HG02818, HG01352, NA19434, NA19240
Known GenesPASK
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)nsv3361212
Frequency
Sample Size14
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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