A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694851



Internal ID15084817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21390281..21414859hg38UCSC Ensembl
Innerchr12:21543215..21567793hg19UCSC Ensembl
Innerchr12:21434482..21459060hg18UCSC Ensembl
Innerchr12:21434482..21459060hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3824579
hg1924579
hg1824579
hg1724579
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519603
Supporting Variants
Samples
Known GenesSLCO1A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694851
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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