A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3380917



Internal ID19811896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:51709720..51709720hg38UCSC Ensembl
chr3:51743736..51743736hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg381478
hg191478
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14656307, nssv14654514, nssv14652623, nssv14654957, nssv14659298, nssv14671579, nssv14669763, nssv14660254, nssv14652400, nssv14669846, nssv14657057, nssv14671647, nssv14667616
SamplesCHM13, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesGRM2
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)nsv3380917
Frequency
Sample Size14
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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