A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3359214



Internal ID19443506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127694288..127694361hg38UCSC Ensembl
chr3:127413131..127413204hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14688405, nssv14678035, nssv14673751
SamplesCHM13, NA12878, HG02818
Known GenesMGLL
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)nsv3359214
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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