A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3388996



Internal ID19819973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40752822..40752822hg38UCSC Ensembl
chr4:40754839..40754839hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14674478, nssv14688043, nssv14678618, nssv14683703, nssv14681051, nssv14686540, nssv14680490, nssv14691248, nssv14685919, nssv14678978, nssv14677709
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HG01352, NA19434, NA19240, HG00733
Known GenesNSUN7
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)nsv3388996
Frequency
Sample Size14
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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