A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3398573



Internal ID19829550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77586987..77586987hg38UCSC Ensembl
chr5:76882812..76882812hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14707402, nssv14703366, nssv14705422, nssv14703678, nssv14693309, nssv14698003, nssv14706483, nssv14707152, nssv14703640, nssv14704143, nssv14711888, nssv14702630
SamplesHG02106, HG04217, CHM1, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, 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)nsv3398573
Frequency
Sample Size14
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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