A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3339540



Internal ID19423832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24212678..24212678hg38UCSC Ensembl
chr14:24681884..24681884hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14567105, nssv14560726, nssv14570909
SamplesHG02106, CHM1, HG01352
Known GenesCHMP4A
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)nsv3339540
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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