A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523487



Internal ID18821768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39909703..39920939hg38UCSC Ensembl
Innerchr12:40303505..40314741hg19UCSC Ensembl
Innerchr12:38589772..38601008hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3811237
hg1911237
hg1811237
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1038858
Supporting Variants
Samples
Known GenesSLC2A13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3523487
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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