A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14609747



Internal ID19542737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14747701..14764000hg38UCSC Ensembl
chr18:14747700..14763999hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3816300
hg1916300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3343628
Supporting Variants
SamplesHG01352
Known GenesANKRD30B
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)nssv14609747
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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