A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712578



Internal ID18664173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84396728..84956654hg38UCSC Ensembl
Innerchr12:84790507..85350433hg19UCSC Ensembl
Innerchr12:83314638..83874564hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38559927
hg19559927
hg18559927
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1035236
Supporting Variants
Samples
Known GenesMIR548T, SLC6A15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3712578
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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