A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3595257



Internal ID18546852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:51522568..51662036hg38UCSC Ensembl
Innerchr3:51556584..51696052hg19UCSC Ensembl
Innerchr3:51531624..51671092hg18UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg38139469
hg19139469
hg18139469
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999553
Supporting Variants
Samples
Known GenesRAD54L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3595257
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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