A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039591



Internal ID18782122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128763841..128793950hg38UCSC Ensembl
Innerchr12:129248386..129278495hg19UCSC Ensembl
Innerchr12:127814339..127844448hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3830110
hg1930110
hg1830110
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1576n100
Supporting Variantsnssv3526183
Samples
Known GenesSLC15A4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039591
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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