A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3395012



Internal ID19479303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55433461..55433461hg38UCSC Ensembl
chr5:54729289..54729289hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14694080, nssv14699915, nssv14698008, nssv14699162, nssv14692872, nssv14710372, nssv14694202, nssv14701427, nssv14704175, nssv14700704, nssv14703282, nssv14698240
SamplesCHM13, HG02106, HG04217, CHM1, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00514
Known GenesPPAP2A
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)nsv3395012
Frequency
Sample Size14
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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