A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996510



Internal ID15235370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:3190835..5290834hg38UCSC Ensembl
Outerchr12:3300001..5400000hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg382100000
hg192100000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv483060
Supporting Variants
Samples
Known GenesAKAP3, C12orf4, C12orf5, CCND2, DYRK4, EFCAB4B, FGF23, FGF6, GALNT8, KCNA1, KCNA5, KCNA6, NDUFA9, PARP11, PRMT8, RAD51AP1, TSPAN9
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nssv2996510
Frequency
Sample Size39
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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