A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482978



Internal ID15582346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22166187..22325359hg38UCSC Ensembl
Innerchr12:22319121..22478293hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38159173
hg19159173
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2995899
Samples
Known GenesST8SIA1
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv482978
Frequency
Sample Size39
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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