A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3524889



Internal ID18476484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109064624..109159352hg38UCSC Ensembl
Innerchr12:109502429..109597157hg19UCSC Ensembl
Innerchr12:107986812..108081540hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3894729
hg1994729
hg1894729
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1050313
Supporting Variants
Samples
Known GenesACACB, ALKBH2, UNG, USP30
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3524889
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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