A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3389018



Internal ID19819995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145693836..145694542hg38UCSC Ensembl
chr4:146614988..146615694hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14705298, nssv14703316, nssv14710435, nssv14697724, nssv14698789, nssv14697974, nssv14693268, nssv14708245, nssv14707746, nssv14697250, nssv14705998, nssv14702536, nssv14693312, nssv14692903
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesC4orf51
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)nsv3389018
Frequency
Sample Size14
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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