A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14720598



Internal ID19611068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149480793..149481751hg38UCSC Ensembl
chr6:149801929..149802887hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38959
hg19959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3389542
Supporting Variants
SamplesHG02818
Known GenesZC3H12D
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)nssv14720598
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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