A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1036308



Internal ID19125527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4639491..4694990hg38UCSC Ensembl
Innerchr12:4748657..4804156hg19UCSC Ensembl
Innerchr12:4618918..4674417hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3855500
hg1955500
hg1855500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3708078
Samples
Known GenesAKAP3, NDUFA9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1036308
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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