A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043104



Internal ID18785635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128763841..128795043hg38UCSC Ensembl
Innerchr12:129248386..129279588hg19UCSC Ensembl
Innerchr12:127814339..127845541hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3831203
hg1931203
hg1831203
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1576n100
Supporting Variantsnssv3712632
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)nsv1043104
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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