A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3371625



Internal ID19802604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23712697..23712767hg38UCSC Ensembl
chr22:24054884..24054954hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14652997, nssv14668628, nssv14668795, nssv14654238, nssv14670087, nssv14666244, nssv14658880, nssv14663517
SamplesHG02106, HG04217, CHM1, HG00268, NA12878, HG01352, NA19434, HG00733
Known GenesGUSBP11
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)nsv3371625
Frequency
Sample Size14
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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