A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521257



Internal ID15448550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:79003173..79033109hg38UCSC Ensembl
Innerchr7:78632489..78662425hg19UCSC Ensembl
Innerchr7:78470425..78500361hg18UCSC Ensembl
Innerchr7:78277140..78307076hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3829937
hg1929937
hg1829937
hg1729937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697871
Samples
Known GenesMAGI2, MAGI2-AS2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521257
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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