A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3390935



Internal ID19821912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196511959..196511959hg38UCSC Ensembl
chr3:196238830..196238830hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14677869, nssv14690485, nssv14684861, nssv14687022, nssv14679024
SamplesCHM13, HG04217, CHM1, NA19434, NA19240
Known GenesC3orf43
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)nsv3390935
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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