A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14512363



Internal ID19482170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67499573..67499573hg38UCSC Ensembl
chr11:67267044..67267044hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38536
hg19536
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3334043
Supporting Variants
SamplesHG00514
Known GenesPITPNM1
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)nssv14512363
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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