A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014936



Internal ID18757471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:151163295..151261965hg38UCSC Ensembl
Innerchr2:152019809..152118479hg19UCSC Ensembl
Innerchr2:151728055..151826725hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3898671
hg1998671
hg1898671
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582965
Samples
Known GenesRBM43
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014936
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