A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005012



Internal ID18747543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:152350250..152417372hg38UCSC Ensembl
Innerchr2:153206764..153273886hg19UCSC Ensembl
Innerchr2:152915010..152982132hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3867123
hg1967123
hg1867123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582970
Samples
Known GenesFMNL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005012
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