A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3388279



Internal ID19819256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40233419..40235438hg38UCSC Ensembl
chr4:40235039..40237058hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382020
hg192020
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14674880, nssv14679664, nssv14678315, nssv14676631
SamplesHG04217, NA19434, NA19240, HG00733
Known GenesRHOH
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)nsv3388279
Frequency
Sample Size14
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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