A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521707



Internal ID15102314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18630829..18631318hg38UCSC Ensembl
Innerchr12:18783763..18784252hg19UCSC Ensembl
Innerchr12:18675030..18675519hg18UCSC Ensembl
Innerchr12:18675030..18675519hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38490
hg19490
hg18490
hg17490
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698331
Samples
Known GenesPIK3C2G
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521707
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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