A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3379290



Internal ID19463582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169737914..169737914hg38UCSC Ensembl
chr4:170659065..170659065hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14700648, nssv14710316
SamplesNA12878, HX1
Known GenesC4orf27
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)nsv3379290
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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