A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14616356



Internal ID19499636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81858343..81858662hg38UCSC Ensembl
chr3:81907494..81907813hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3386278
Supporting Variants
SamplesHG00514
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
CommentsAbsence of a Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nssv14616356
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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