A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3324497



Internal ID19755476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65426218..65426218hg38UCSC Ensembl
chr1:65891901..65891901hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14474140, nssv14485704
SamplesHG02818, NA19434
Known GenesLEPR, LEPROT
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)nsv3324497
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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