A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14244968



Internal ID21303942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105470132..105487979hg38UCSC Ensembl
Outerchr1:105459540..105491310hg38UCSC Ensembl
Innerchr1:106012754..106030601hg19UCSC Ensembl
Outerchr1:106002162..106033932hg19UCSC Ensembl
Innerchr1:105814277..105832124hg18UCSC Ensembl
Outerchr1:105803685..105835455hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3831771
hg1931771
hg1831771
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170147
Supporting Variants
SamplesNGO_1
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14244968
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer