A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053259



Internal ID18795790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4287210..4299636hg38UCSC Ensembl
Innerchr12:4396376..4408802hg19UCSC Ensembl
Innerchr12:4266637..4279063hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3812427
hg1912427
hg1812427
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1346n100
Supporting Variantsnssv3522264
Samples
Known GenesCCND2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053259
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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