A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3381694



Internal ID19812673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181439101..181476900hg38UCSC Ensembl
chr5:180866102..180903901hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3837800
hg1937800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14725025, nssv14718902, nssv14721228, nssv14724642, nssv14731501, nssv14717867, nssv14714793, nssv14720522, nssv14730086, nssv14729358, nssv14725294, nssv14719957
SamplesHG02106, HG04217, CHM1, HG00268, NA12878, HG02818, 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)nsv3381694
Frequency
Sample Size14
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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