A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3399930



Internal ID19830907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128118501..128118629hg38UCSC Ensembl
chr8:129130747..129130875hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14813326, nssv14814129, nssv14812700, nssv14812157
SamplesCHM13, HX1, HG02059, HG00514
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 SVA insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3399930
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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