A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520985



Internal ID15448278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:213404993..213461255hg38UCSC Ensembl
Innerchr2:214269717..214325979hg19UCSC Ensembl
Innerchr2:213977962..214034224hg18UCSC Ensembl
Innerchr2:214095223..214151485hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3856263
hg1956263
hg1856263
hg1756263
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697722
Samples
Known GenesSPAG16
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520985
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