A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3582967



Internal ID18534562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:151258123..151533002hg38UCSC Ensembl
Innerchr2:152114637..152389516hg19UCSC Ensembl
Innerchr2:151822883..152097762hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38274880
hg19274880
hg18274880
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012139
Supporting Variants
Samples
Known GenesMIR4773-1, MIR4773-2, NEB, NMI, RBM43, RIF1, TNFAIP6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3582967
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