A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483111



Internal ID15235585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:86306223..88606223hg38UCSC Ensembl
Outerchr12:86700001..89000000hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg382300001
hg192300000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996375
Samples
Known GenesC12orf29, C12orf50, CEP290, KITLG, MGAT4C, MIR548AL, MKRN9P, TMTC3
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483111
Frequency
Sample Size39
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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