A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522812



Internal ID15450105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:644623..650326hg38UCSC Ensembl
Innerchr20:625267..630970hg19UCSC Ensembl
Innerchr20:573267..578970hg18UCSC Ensembl
Innerchr20:573267..578970hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg385704
hg195704
hg185704
hg175704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698458
Samples
Known GenesSRXN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522812
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