A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3387283



Internal ID19818261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47976145..47976234hg38UCSC Ensembl
chr4:47978162..47978251hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14680322, nssv14690737, nssv14681412, nssv14684435, nssv14676888, nssv14681953, nssv14678290, nssv14676125, nssv14687856, nssv14679694, nssv14674063
SamplesCHM13, HG02106, HG04217, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00514
Known GenesCNGA1
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)nsv3387283
Frequency
Sample Size14
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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