A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042810



Internal ID18785341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109104860..109226402hg38UCSC Ensembl
Innerchr12:109542665..109664207hg19UCSC Ensembl
Innerchr12:108027048..108148590hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38121543
hg19121543
hg18121543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1554n100
Supporting Variantsnssv3524890
Samples
Known GenesACACB, UNG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042810
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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