A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045488



Internal ID18788019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111883935..111922897hg38UCSC Ensembl
Innerchr12:112321739..112360701hg19UCSC Ensembl
Innerchr12:110806122..110845084hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3838963
hg1938963
hg1838963
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712604
Samples
Known GenesADAM1A, MAPKAPK5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045488
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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