A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14592940



Internal ID19683944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32915725..32921292hg38UCSC Ensembl
chr18:30495689..30501256hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg385568
hg195568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3354363
Supporting Variants
SamplesNA12878
Known Genes
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)nssv14592940
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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