A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521928



Internal ID15102535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120603925..121356945hg38UCSC Ensembl
Innerchr12:121041728..121794748hg19UCSC Ensembl
Innerchr12:119526111..120279131hg18UCSC Ensembl
Innerchr12:119504448..120257468hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38753021
hg19753021
hg18753021
hg17753021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694698
Samples
Known GenesACADS, ANAPC5, C12orf43, CABP1, CAMKK2, HNF1A, HNF1A-AS1, MIR4700, MLEC, OASL, P2RX4, P2RX7, SPPL3, UNC119B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521928
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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