A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3383601



Internal ID19467894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:75861615..75861615hg38UCSC Ensembl
chr4:76782768..76782768hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14686319, nssv14675805, nssv14674788, nssv14675332, nssv14677646, nssv14688261, nssv14683313, nssv14677306, nssv14680548, nssv14673650, nssv14690201, nssv14679496, nssv14689062
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesPPEF2
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)nsv3383601
Frequency
Sample Size14
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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