A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046546



Internal ID18789077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109111774..109226402hg38UCSC Ensembl
Innerchr12:109549579..109664207hg19UCSC Ensembl
Innerchr12:108033962..108148590hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38114629
hg19114629
hg18114629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1554n100
Supporting Variantsnssv3524891
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)nsv1046546
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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