A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3342378



Internal ID19773356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31759418..31759418hg38UCSC Ensembl
chr13:32333555..32333555hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14538748, nssv14540510, nssv14533202, nssv14534802, nssv14535028, nssv14544557
SamplesHG02106, HG04217, CHM1, HG02818, HX1, HG01352
Known GenesRXFP2
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)nsv3342378
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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