A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14536676



Internal ID19672072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112988813..112988813hg38UCSC Ensembl
chr13:113643127..113643127hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3344785
Supporting Variants
SamplesNA12878
Known GenesMCF2L
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)nssv14536676
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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