A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517246



Internal ID15444539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:64327440..64330751hg38UCSC Ensembl
Innerchr12:64721220..64724531hg19UCSC Ensembl
Innerchr12:63007487..63010798hg18UCSC Ensembl
Innerchr12:63007487..63010798hg17UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg383312
hg193312
hg183312
hg173312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654116, nssv664684
Samples
Known GenesC12orf56
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517246
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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