A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14678315



Internal ID19731542
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 StatusS
Merged Variantsnsv3388279
Supporting Variants
SamplesNA19434
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)nssv14678315
Frequency
Sample Size14
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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