A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996375



Internal ID15235235
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 StatusS
Merged Variantsnsv483111
Supporting Variants
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)nssv2996375
Frequency
Sample Size39
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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