A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14620942



Internal ID19376836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27770664..27770731hg38UCSC Ensembl
chr22:28166652..28166719hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3375698
Supporting Variants
SamplesNA19434
Known GenesMN1
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
CommentsAbsence of a Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nssv14620942
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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