A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3377414



Internal ID19808392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130462201..130473900hg38UCSC Ensembl
chr2:131219774..131231473hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3811700
hg1911700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14621367, nssv14616294
SamplesHG04217, HG02059
Known GenesPOTEI
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)nsv3377414
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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