A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3369809



Internal ID19800788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174454805..174454805hg38UCSC Ensembl
chr2:175319533..175319533hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14644886, nssv14637925
SamplesHG04217, CHM1
Known GenesGPR155
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)nsv3369809
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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