A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14604569



Internal ID19539566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13675172..13675263hg38UCSC Ensembl
chr18:13675171..13675262hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3341998
Supporting Variants
SamplesHG01352
Known GenesFAM210A
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)nssv14604569
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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