A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3321449



Internal ID19752427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:191371..191371hg38UCSC Ensembl
chr2:114350172..114350172hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14478404, nssv14488896, nssv14473644, nssv14489124, nssv14481701, nssv14472145, nssv14489644, nssv14479308, nssv14486411
SamplesCHM13, HG02106, CHM1, HG00268, HG02818, HG02059, HG01352, NA19434, NA19240
Known GenesWASH2P
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)nsv3321449
Frequency
Sample Size14
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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