A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14673412



Internal ID19520653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195771174..195771174hg38UCSC Ensembl
chr3:195498045..195498045hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3361429
Supporting Variants
SamplesHG00733
Known GenesMUC4
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)nssv14673412
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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