A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3399742



Internal ID19830719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63857152..63857275hg38UCSC Ensembl
chr8:64769709..64769832hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14768907, nssv14765666, nssv14767869, nssv14766965, nssv14768289, nssv14757646, nssv14753718, nssv14754366, nssv14765636
SamplesHG02106, HG04217, NA12878, HG02818, HX1, HG01352, NA19434, NA19240, 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
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3399742
Frequency
Sample Size14
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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