A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528091



Internal ID15455384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47022100..47046593hg38UCSC Ensembl
Innerchr2:47249239..47273732hg19UCSC Ensembl
Innerchr2:47102743..47127236hg18UCSC Ensembl
Innerchr2:47160890..47185383hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3824494
hg1924494
hg1824494
hg1724494
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704627
Samples
Known GenesTTC7A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528091
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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