A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052416



Internal ID18794947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109113435..109221664hg38UCSC Ensembl
Innerchr12:109551240..109659469hg19UCSC Ensembl
Innerchr12:108035623..108143852hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38108230
hg19108230
hg18108230
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1554n100
Supporting Variantsnssv3524893
Samples
Known GenesACACB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052416
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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