A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039831



Internal ID18782362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:16119581..16239611hg38UCSC Ensembl
Innerchr12:16272515..16392545hg19UCSC Ensembl
Innerchr12:16163782..16283812hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38120031
hg19120031
hg18120031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3710284
Samples
Known GenesSLC15A5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039831
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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