A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3345749



Internal ID19776727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76702858..76702858hg38UCSC Ensembl
chr17:74698940..74698940hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14583393, nssv14577562, nssv14572357, nssv14576331, nssv14582984, nssv14584246, nssv14584822, nssv14587226, nssv14582883, nssv14586901
SamplesCHM13, HG02106, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, HG00514
Known GenesMXRA7
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)nsv3345749
Frequency
Sample Size14
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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