A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3391423



Internal ID19822400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:75939201..75953600hg38UCSC Ensembl
chr3:75988352..76002751hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3814400
hg1914400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14670346, nssv14666906
SamplesHG01352, NA19434
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)nsv3391423
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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