A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14813301



Internal ID19562766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87010159..87010336hg38UCSC Ensembl
chr6:87719877..87720054hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3393163
Supporting Variants
SamplesHG02059
Known GenesHTR1E
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 SVA insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nssv14813301
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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