A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483117



Internal ID15582230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16814794..16992623hg38UCSC Ensembl
Innerchr8:16672303..16850132hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38177830
hg19177830
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996483
Samples
Known Genes
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483117
Frequency
Sample Size39
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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