A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522413



Internal ID15449706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:48008321..48017525hg38UCSC Ensembl
Innerchr1:48473993..48483197hg19UCSC Ensembl
Innerchr1:48246580..48255784hg18UCSC Ensembl
Innerchr1:48186013..48195217hg17UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg389205
hg199205
hg189205
hg179205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695196
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522413
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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