A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518451



Internal ID15099058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52043707..52045965hg38UCSC Ensembl
Innerchr12:52437491..52439749hg19UCSC Ensembl
Innerchr12:50723758..50726016hg18UCSC Ensembl
Innerchr12:50723758..50726016hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382259
hg192259
hg182259
hg172259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv656259, nssv684097
Samples
Known GenesNR4A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518451
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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