A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3373811



Internal ID19804789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:15886001..15932500hg38UCSC Ensembl
chr14:19751070..19796904hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3846500
hg1945835
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14662087, nssv14666544, nssv14663562, nssv14658097, nssv14661401, nssv14657114, nssv14656634
SamplesHG04217, NA12878, HX1, HG02059, NA19434, NA19240, HG00733
Known Genes
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)nsv3373811
Frequency
Sample Size14
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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