A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701795



Internal ID15091761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24935378..24937152hg38UCSC Ensembl
Innerchr12:25088312..25090086hg19UCSC Ensembl
Innerchr12:24979579..24981353hg18UCSC Ensembl
Innerchr12:24979579..24981353hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381775
hg191775
hg181775
hg171775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525641
Supporting Variants
Samples
Known GenesBCAT1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701795
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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