A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3524864



Internal ID18476459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:100058759..100251225hg38UCSC Ensembl
Innerchr12:100452537..100645003hg19UCSC Ensembl
Innerchr12:98976668..99169134hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38192467
hg19192467
hg18192467
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1048784
Supporting Variants
Samples
Known GenesACTR6, GOLGA2P5, MIR1827, UHRF1BP1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3524864
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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