A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3343628



Internal ID19774606
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 StatusM
Merged Variants
Supporting Variantsnssv14609747, nssv14592870
SamplesHG01352, NA19434
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)nsv3343628
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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