A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520878



Internal ID15101485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24901957..24903131hg38UCSC Ensembl
Innerchr12:25054891..25056065hg19UCSC Ensembl
Innerchr12:24946158..24947332hg18UCSC Ensembl
Innerchr12:24946158..24947332hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381175
hg191175
hg181175
hg171175
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv676845, nssv678592
Samples
Known GenesBCAT1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520878
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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