A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523849



Internal ID15104456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:150861619..151287010hg38UCSC Ensembl
Innerchr2:151718133..152143524hg19UCSC Ensembl
Innerchr2:151426379..151851770hg18UCSC Ensembl
Innerchr2:151543641..151969032hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38425392
hg19425392
hg18425392
hg17425392
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699683
Samples
Known GenesNMI, RBM43
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523849
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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