A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3393134



Internal ID19824111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:147358249..147358298hg38UCSC Ensembl
chr4:148279401..148279450hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14701032, nssv14707964, nssv14696277, nssv14701823, nssv14710109
SamplesHG04217, NA12878, HG01352, NA19434, HG00514
Known Genes
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)nsv3393134
Frequency
Sample Size14
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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