A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3324678



Internal ID19755657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44876574..44876574hg38UCSC Ensembl
chr1:45342246..45342246hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14474522, nssv14473855, nssv14479660, nssv14489778, nssv14485935, nssv14488964, nssv14473235, nssv14483309, nssv14473668, nssv14482753, nssv14484721, nssv14473608, nssv14490072, nssv14480472
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesEIF2B3
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)nsv3324678
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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