A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3324606



Internal ID19755585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3693987..3693987hg38UCSC Ensembl
chr1:3610551..3610551hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14483653, nssv14473124
SamplesHG02059, HG01352
Known GenesTP73
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)nsv3324606
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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