A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3409668



Internal ID19840644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:35173801..35192600hg38UCSC Ensembl
chr7:35213413..35232212hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3818800
hg1918800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14744902, nssv14745018, nssv14743109, nssv14741922, nssv14739907, nssv14743472, nssv14739661, nssv14749443, nssv14749382, nssv14734564, nssv14751971, nssv14751753, nssv14735259
SamplesCHM13, HG02106, HG04217, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesDPY19L2P1
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)nsv3409668
Frequency
Sample Size14
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer