A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14535979



Internal ID19407191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44954010..44954010hg38UCSC Ensembl
chr13:45528145..45528145hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3355608
Supporting Variants
SamplesCHM1
Known GenesNUFIP1
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)nssv14535979
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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