A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3398322



Internal ID19829299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40982192..40982242hg38UCSC Ensembl
chr4:40984209..40984259hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14687758, nssv14685848, nssv14677914, nssv14686178
SamplesCHM13, HG04217, HG02059, HG01352
Known GenesAPBB2
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)nsv3398322
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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